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• v.8(4); 2021 Dec

DNA Profiling in Forensic Science: A Review

Jaya lakshmi bukyya.

1 Department of Oral Medicine and Radiology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana, India

M L. Avinash Tejasvi

2 Department of Oral Medicine and Radiology, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India

Anulekha Avinash

3 Department of Prosthodontics, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India

Chanchala H. P.

4 Department of Pedodontics and Preventive Dentistry, JSS Dental College, Mysore, Karnataka, India

Priyanka Talwade

Mohammed malik afroz.

5 Department of Oral Surgery and Diagnostic Sciences, Oral Medicine, College of Dentistry, Dar Al Uloom University, Riyadh, Kingdom of Saudi Arabia

Archana Pokala

Praveen kumar neela.

6 Department of Orthodontics, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India

T K. Shyamilee

7 Department of Oral Pathology, Private Practice, Hyderabad, Telangana, India

Vammi Srisha

8 Department of Oral Medicine and Radiology, Private Practice, Bangalore, Karnataka, India

DNA is present in most of the cells in our body, which is unique in each and every individual, and we leave a trail of it everywhere we go. This has become an advantage for forensic investigators who use DNA to draw conclusion in identification of victim and accused in crime scenes. This review described the use of genetic markers in forensic investigation and their limitations.

Introduction

Forensic identification is a universal method used to establish the veracity in the process of forensic investigation. Both criminalities and medico-legal identification are integrative parts of forensic identification, having probative value. The value of an identification method resides in the specialist's ability to compare traces left at the crime scene with traces found on other materials such as reference evidence. Through this procedure, one can compare traces of blood, saliva, or any biological sample left at the crime scene with those found on a suspect's clothes and with samples from the victim. Medico-legal identification is based on scientific methods or intrinsic scientific methods absorbed from other sciences, usually bio-medical sciences. Scientific progress in the last 30 to 40 years has highlighted and continues to highlight the role of the specialists in identification. Their role proves its significance in cases that have to do with civil, family, and criminal law, as well as in cases of catastrophes with numerous victims (accidents, natural disasters, terrorist attacks, and wars). Together with the discovery by Mullis in 1983 of the polymerase chain reaction (PCR), Sir Alec Jeffreys in the field of forensic genetics used this technique by studying a set of DNA fragments that proved to have unique characteristics, which were nonrecurring and intrinsic for each individual, the only exception being identical twins. Alec Jeffreys named these reaction products “genetic fingerprints.” 1 PCR procedure is correct as per the reference.

Brief History of Forensic Genetics

• In 1900, Karl Landsteiner distinguished the main blood groups and observed that individuals could be placed into different groups based on their blood type. This was the first step in development of forensic hemogenetics. 2
• 1915: Leone Lattes describes the use of ABO genotyping to resolve paternity case. 2
• 1931: Absorption–inhibition of ABO genotyping technique had been developed. Following on from this, various blood group markers and soluble blood serum protein markers were characterized. 2
• In the 1960s and 1970s: Developments in molecular biology, restriction of enzymes, Southern blotting, 3 and Sanger sequencing 4 enabled researchers to examine sequences of DNA.
• 1978: Detection of DNA polymorphisms using Southern blotting. 5
• 1980: First polymorphic locus was reported. 6
• 1983: A critical development in the history of forensic genetics came with the advent of PCR process that can amplify specific regions of DNA, which was conceptualized by Kary Mullis, a chemist; later he was awarded Nobel Prize in 1993. 7
• 1984: Alec Jeffrey introduced DNA fingerprinting in the field of forensic genetics, and proved that some regions in the DNA have repetitive sequences, which vary among individuals. Due to this discovery, first forensic case was solved using DNA analysis. 8

DNA Structure and Genome

DNA was first described by Watson and Crick in 1953, as double-stranded molecule that adopts a helical arrangement. Each individual's genome contains a large amount of DNA that is a potential target for DNA profiling.

DNA Structure

DNA is often described as the “blue print of life,” because it contains all the information that an organism requires in function and reproduction. The model of the double-helix structure of DNA was proposed by Watson and Crick. The DNA molecule is a polymer of nucleotides. Each nucleotide is composed of a nitrogenous base, a five-carbon sugar (deoxyribose), and a phosphate group. There are four nitrogenous bases in DNA, two purines (adenine and guanine) and two pyrimidines (cytosine and thymine). Each base is attracted to its complimentary base: adenine base always pairs with thymine base whereas cytosine base always pairs with guanine base ( Fig. 1 ). 9

Structure of DNA. Image courtesy: National Human Genome Research Institute.

Organization of DNA into Chromosomes

There are two complete copies of the genome in each nucleated human cell. Humans contain ∼3,200,000,000 base pairs (BPs) of information, organized in 23 pairs of chromosomes. There are 2 sets of chromosomes; 1 version of each chromosome is inherited from each parent with total of 46 chromosomes. 10 11 12

Classification of Human Genome 2

Based on the structure and function, Classification of Human Genome into following different types ( Fig. 2 ).

Classification of human genome.

• Coding and regulatory regions: The regions of DNA that encode and regulate protein synthesis are called genes. Approximately, a human genome contains 20,000 to 25,000 genes; 1.5% of the genome is involved in encoding for proteins.
• Noncoding: Overall, 23.5% of the genome is classified under genetic sequence but does not involve in enclosing for proteins; they are mainly involved with the regulation of genes including enhancers, promoters, repressors, and polyadenylation signals.
• Extragenic DNA: Approximately 75% of the genome is extragenic, of which 50% is composed of repetitive DNA and 45% of interspersed repeats. Four common types of interspersed repetitive elements are: (i) short interspersed elements, (ii) long interspersed elements, (iii) long terminal repeats, and (iv) DNA transposons. Tandem repeats consist of three different types: (i) satellite DNA, (ii) minisatellite DNA, and (iii) microsatellite DNA.

Genome and Forensic Genetics

DNA loci that are to be used for forensic genetics should have the following ideal properties:

• Should be highly polymorphic.
• Should be easy and cheap to characterize.
• Should be simple to interpret and easy to compare between laboratories.
• Should have a low mutation rate.

With recent advances in molecular biology techniques, it is possible to analyze any region with 3.2 billion BPs that make up the genome. 2

Biological Material

Three most important steps are collection, characterization, and storage.

Sources of Biological Evidence

Human body is composed of trillions of cells and most of them are nucleated cells, except for the red blood cells. Each nucleated cell contains two copies of individual's genome and can be used to generate a DNA profile. Usually, samples show some level of degradation but when the level of degradation is high, more cellular material is needed to produce a DNA profile. 13

Biological samples with nucleated cells are essential for forensic genetic profiling, such as: 14

• Liquid blood or dry deposits.
• Liquid saliva, semen, or dry deposits.
• Hard tissues like bone and teeth.
• Hair with follicles.

Collection and Handling of Material at the Crime Scenes

Whole blood is considered as one of the widely used source of DNA. It is preserved in an anticoagulant (ethylenediamine tetra acetic acid) and conserved at 4°C for 5 to 7 days initially. After this period, DNA samples are kept at –20°C for few weeks or at –80°C for longer periods of time. Epithelial cells collected from crime scenes are harvested with sterile brush or bud. After harvesting, they are wrapped in plastic envelope or paper envelope and kept in a dry environment at room temperature. 15 It is essential that proper care is taken, such as maintaining integrity of the crime scene, wearing face masks and full protective suits during the investigation of scene, 16 17 18 as inappropriate handling of the evidence can lead to serious consequences. In worst cases, cross-contamination leads to high level of sample degradation; this can confuse or avert the final result of evidence.

Characterization of DNA Analysis: Basic Steps 1

Analysis of DNA involves four basic steps, which are as follows ( Fig. 3 ):

Extraction of DNA.

• DNA extraction.
• DNA quantification.
• DNA amplification.
• Detection of the DNA-amplified products.

DNA Extraction

The first DNA extraction was performed by Friedrich Miescher in 1869. Since then, scientists have made progress in designing various extraction methods that are easier, cost-effective, reliable, faster to perform, and producing a higher yield. With the advent of gene-editing and personalized medicine, there has been an increase in the demand for reliable and efficient DNA isolation methods that can yield adequate quantities of high-quality DNA with minimal impurities.

There are various methods of extraction as mentioned below, though commonly used are Chelex-100 method, silica-based DNA extraction, and phenol–chloroform method.

• Chromatography-based DNA extraction method.
• Ethidium bromide–cesium chloride (EtBr-CsCl) gradient centrifugation method.
• Alkaline extraction method.
• Silica matrices method.
• Salting-out method.
• Cetyltrimethylammonium bromide (CTAB) extraction method.
• Phenol–chloroform method.
• Sodium dodecyl sulfate (SDS)-proteinase K method.
• Silica column-based DNA extraction method.
• Magnetic beads method.
• Cellulose-based paper method.
• Chelex-100 extraction method.
• Filter paper-based DNA extraction method.

Chromatography-Based DNA Extraction Method

Chromatography-based DNA extraction method is used to isolate DNA from any kind of biological material. 19 This method is divided into three different types:

• Size-inclusion chromatography: In this method, molecules are separated according to their molecular sizes and shape.
• Ion-exchange chromatography (IEC): In this method, solution containing DNA anion-exchange resin selectively binds to DNA with its positively charged diethylaminoethyl cellulose group. 20 This method is simple to perform when compared with other DNA extraction methods. 19
• This procedure is used for isolation of messenger ribonucleic acid (m-RNA).
• It is time-efficient.
• It yields a very good quality of nucleic acids. 21

EtBr-CsCl Gradient Centrifugation Method

In 1957, Meselson et al developed this method. 22 DNA is mixed with CsCl solution, which is then ultra-centrifuged at high speed (10,000–12,000 rpm) for 10 hours, resulting in separation of DNA from remaining substances based on its density. EtBr is incorporated more into nonsupercoiled DNA than supercoiled DNA molecules resulting in accumulation of supercoiled DNA at lower density, and location of DNA is visualized under ultraviolet (UV) light.

• This method is used to extract DNA from bacteria.

Limitations:

• Greater amount of material source is needed.
• Time-consuming.
• Costly procedure due to long duration of high-speed ultra-centrifugation.
• Complicated method. 23

Alkaline Extraction Method

First introduced by Birnboim and Doly in 1979, this method is used to extract plasmid DNA from cells. 24 Sample is suspended in NaOH solution and SDS detergent for lysis of cell membrane and protein denaturation. Potassium acetate is then added to neutralize the alkaline solution, which results in formation of precipitate. Plasmid DNA in the supernatant is recovered after centrifugation.

Limitation:

• Contamination of plasmid DNA with fragmented chromosomal DNA. 25

Silica Matrices Method

The affinity between DNA and silicates was described by Vogelstein and Gillespie in 1979. 26

Principle: Selective binding of negatively charged DNA with silica surface is covered with positively charged ions. DNA tightly binds to silica matrix, and other cellular contaminants can be washed using distilled water or Tris-EDTA. 27

Advantages:

• Fast to perform.
• Cost-efficient.
• Silica matrices cannot be reused.

Salting-Out Method

Introduced by Miller et al 55 in 1988, this method is a nontoxic DNA extraction method.

Procedure: Sample is added to 3 mL of lysis buffer, SDS, and proteinase K, and incubated at 55 to 65°C overnight. Next, 6 mL of saturated NaCl is added and centrifuged at 2,500 rpm for 15 minutes. DNA containing supernatant is transferred into fresh tube and precipitated using ethanol. 28

• This method is used to extract DNA from blood, tissue homogenate, or suspension culture.
• High-quality DNA is obtained.
• Reagents are nontoxic.28,29

Cetyltrimethylammonium Bromide (CTAB) Extraction Method

This method was introduced by Doyle et al in 1990. 30

Samples are added to 2% CTAB at alkaline pH. In a solution of low ionic strength, buffer precipitates DNA and acidic polysaccharides from remaining cellular components. Solutions with high salt concentrations are then added to remove DNA from acidic polysaccharides; later, DNA is purified using organic solvents, alcohols, phenols, and chloroform. 20

• Time-consuming method.
• Toxic reagents like phenol and chloroform are used.

Phenol–Chloroform Method

This method was introduced by Barker et al in 1998. 31 Lysis containing SDS is added to cells to dissolve the cell membrane and nuclear envelope; phenol–chloroform–isoamyl alcohol reagent is added in the ratio 25:24:1. 28 Both SDS and phenol cause protein denaturation, while isoamyl alcohol prevents emulsification and hence facilitates DNA precipitation. The contents are then mixed to form biphasic emulsion that is later subjected to vortexing. This emulsion separates into two phases upon centrifugation, upper aqueous phase, composed of DNA, and the lower organic phase, composed of proteins. Upper aqueous phase is transferred to fresh tube and the lower organic phase is discarded. These steps are further repeated until the interface between the organic and aqueous phase is free from protein. 31 Later, sodium acetate solution and ethanol are added in 2:1 or 1:1 ratio, followed by centrifugation for separation of DNA from the solution. The pellet is washed with 70% ethanol to remove excess salt from the DNA and subjected to centrifugation for removal of ethanol. The pellet is dried and suspended in an aqueous buffer or sterile distilled water.

• Used to extract DNA from blood, tissue homogenate, and suspension culture.
• Inexpensive.
• Gold standard method.
• Toxic nature of phenol and chloroform. 28

SDS-Proteinase K Method

It was first introduced by Ebeling et al in 1974. 32 For extraction of DNA, 20 to 50 µL of 10 to 20 mg/mL proteinase K is added. SDS is added to dissolve the cell membrane, nuclear envelope, and also to denature proteins. The solution is incubated for 1 to 18 hours at 50 to 60°C and then DNA can be extracted using the salting-out method or phenol–chloroform method. 33

Silica Column-Based DNA Extraction Method

In this method, 1% SDS, lysis buffer (3 mL of 0.2 M tris and 0.05 M EDTA), and 100 mg of proteinase K are added to sample and incubated at 60°C for 1 hour, and this mixture is added in a tube containing silica gel. To this, phenol–chloroform is added in the ratio of 1:1 and centrifuged for 5 minutes. This separates the organic phase containing proteins beneath the silica column while aqueous phase containing DNA above the gel polymerase, and then aqueous layer is transferred to the tube and dissolved in TE buffer.

• Increase in purity of extracted DNA.
• Silica gel prevents physical contact with toxic reagents.
• DNA yield is 40% higher than organic solvent-based DNA extraction method.34

Magnetic Beads Method

Trevor Hawkins filed a patent “DNA purification and isolation using magnetic particles” in 1998. 35

Magnetic nanoparticles are coated with DNA-binding antibody or polymer that has specific affinity to bind to its surface. 36 In this method, a magnetic field is created at the bottom of the tube using an external magnet that causes separation of DNA-bound magnetic beads from cell lysate. The supernatant formed is rinsed, and beads aggregated at the bottom can be eluted with ethanol precipitation method; and the magnetic pellet is incubated at 65°C to elute the magnetic particles from the DNA. 28

• Time taken is less than 15 minutes.
• Faster compared with other conventional methods.
• Little equipment is required.
• Less cost.19,37

Cellulose-Based Paper

It was first introduced by Whatman in 2000, who filed a patent titled “FTA-coated media for use as a molecular diagnostic tool.” Cellulose is a hydroxylated polymer with high binding affinity for DNA. Whatman FTA cards are commercially available as cellulose-based paper that is widely used for extraction of DNA. 38 They are impregnated with detergents, buffers, and chelating agents that facilitate DNA extraction. About 1 to 2 mm of sample area is removed with micro punch and further processed for downstream applications. 19 39

• Extraction of DNA using cellulose-based paper is fast.
• Highly convenient.
• Does not require laboratory expertise.
• Easy storage of sample.40

Chelex-100 Extraction Method

In 2011, Xlonghui et al 40 patented a DNA extraction method using Chelex-100. Chelex resin is used to chelate metal ions acting as cofactors for DNases. After incubating overnight, 5% Chelex solution and proteinase K are used to degrade the added DNases, which are later boiled in 5% Chelex solution to lyse the remaining cell membranes, and to denature both proteins and DNA. Also, 5% Chelex solution prevents DNA from being digested by DNases that remain after boiling, hence stabilizing the preparation. The resulting DNA can then be concentrated from the supernatant after centrifugation.

• Reduced risk of contamination.
• Use of single test tube.
• Isolated DNA can be unstable. 38

Filter Paper-Based DNA Extraction Method

This method was described by Ruishi and Dilippanthe in 2017. DNA extraction method using filter paper can be used to isolate DNA from plant sources. A spin plate composed of 96-well plate is used, with a hole 1 mm in diameter drilled into bottom of each well used, and each well containing a disk of 8 mm diameter Whatman FTA filter paper. Samples subjected to lysis buffer are filtered with centrifugation.

• Less cost. 41

DNA Quantification

After DNA extraction, an accurate measurement of the amount and quality of DNA extract is desirable. When the correct amount of DNA is added to PCR, it results in best quality within short duration of time. Adding less or more amount of DNA will results in a profile that is difficult or impossible to interpret. 40

Quantity of DNA that can be extracted from a sample depends on the type of model. Quantity of DNA in different biological samples is shown in Table 1 . 42

Classification of Quantification 43

DNA quantification can be classified as follows:

• Microscopic and macroscopic examination.
• Chemical and immunological methods.
• ○ PicoGreen homogenous microtiter plate assays.
• Intact vs degraded DNA–agarose gel electrophoresis.
• Human total autosomal DNA.
• Y chromosome DNA, mitochondrial DNA (mt-DNA), Alu repeat real-time PCR.
• Multiplex real-time PCR.
• End-point PCR DNA quantification and alternative DNA detection methods.
• RNA-based quantification.

Visualization on agarose gels

• It is relatively easy and quick method for assessing both quality and quantity of extracted DNA.
• Gives indication of size of extracted DNA molecules.

Disadvantages:

• Quantification is subjective.
• Total DNA obtained can be mixture of human DNA and microbial DNA and this can lead to overestimation of DNA concentration. 2

Ultraviolet Spectrometry

Spectrometry is commonly used for quantification of DNA in molecular biology but has not been widely adopted by the forensic community. Usually, DNA absorbs light maximally at 260 nm; this feature is used to estimate the amount of DNA extraction by measuring wavelengths ranging from 220 nm to 300 nm. With this method, it is possible to assess the amount of protein (maximum absorbance is 280 nm) and carbohydrate (maximum absorbance is 230 nm). If the DNA extract is clean, the ratio of absorbance should be between 1.8 and 2.0.

• Difficult to quantify small amounts of DNA.
• It is not human specific. 2

Fluorescence Spectrometry

EtBr or 4′,6 diamidino-2-phenylindole can be used to visualize DNA in agarose gels. In addition to staining agarose gels, fluorescent dyes can be used as an alternative to UV spectrometry for DNA quantification. PicoGreen dye is commonly used because it is specific for double-stranded DNA as it has the ability to detect little amount of DNA as 25 pg/mL.

Disadvantage:

• Nonhuman specific. 44

DNA Amplification

There are eight DNA- and RNA-based techniques, but PCR and reverse transcription-PCR have been the predominant techniques.

PCR is the commonly used method of amplification of DNA. PCR amplifies specific regions of DNA template; even a single molecule can be amplified to 1 billion fold by 30 cycles of amplification. 45

DNA amplification occurs in cycling phase, which consists of three stages.

• Denaturation.
• Extraction.

Normal range of PCR cycle is between 28 and 32; when DNA is very low, then cycles can be increased to 34 cycles. 46

Other methods are as follows: 47

• Nucleic acid sequence-based amplification method.
• Strand displacement amplification.
• Recombinase polymerase amplification.
• Strand invasion-based amplification.
• Multiple displacement amplification.
• Hybridization chain reaction.

After the amplification of DNA, the final step is detection of the DNA-amplified products.

Detection of the DNA-Amplified Products

The following methods are used in forensic human identification:

• Autosomal short-tandem repeat (STR) profiling
• Analysis of the Y chromosome
• Analysis of mt-DNA.
• Autosomal single-nucleotide polymorphism (SNP) typing.

Autosomal STR Profiling

STRs were discovered in 1980. Since then, they are considered as gold standard in human identification in forensics. STR or microsatellites are the most frequently genotyped to distinguish between individuals. STR consists of mononucleotide, dinucleotide, trinucleotide, tetranucleotide, pentanucleotide, and hexanucleotide repeats of which tetranucleotide repeats are used for genotyping. 2

STR profiling is used in paternity/maternity testing, rape perpetrators' identification, kinship testing, and disaster victim identification. 48

STR-based DNA analysis in forensic has been well accepted by professionals and population as an important tool in criminal justice and in human identification.

• The test is simple.
• Can be done rapidly. 49

Analysis of the Y Chromosome

Typically, biologically a male individual has 1 Y chromosome and contains 55 genes. Because of this unique feature, analysis of Y chromosome is done in crime cases. 50

Application of Y chromosome in forensic medicine: It is present only in males. Thus, in crime cases, the investigators expect to find Y chromosome at the crime scene. Also, when talking about male–female ratio in body fluid mixtures, such as sexual assault or rapes, by analyzing the Y-STR component, the investigators can obtain more information regarding the male component. It is well known that azoospermic or vasectomized rapists do not leave semen traces, and it is impossible to find spermatozoa on the microscopic examination. In such cases, the Y-STR profiling is very useful, offering information regarding the identity of the accused person. 50

Analysis of Mitochondrial DNA (mt-DNA)

mt-DNA is inherited from mother; thus all the members of a matrilineal family share the identical haplotype.

• mt-DNA has 200 to 1,700 copies per cell.
• Increased probability of survival when compared to nuclear DNA.

Applications:

• Analysis of biologic samples that are severely degraded or old.
• Samples with low amount of DNA (e.g., hair shafts). 51

Autosomal Single-Nucleotide Polymorphism Typing

SNP has a lower heterozygosity when compared with STRs. Advantage of SNP typing over STR is that the DNA template size can be as large as 50 BPs, compared with STRs that need a size of 300 BPs to obtain good STR profiling. 52 Due to this reason, SNP has become an important tool in analyzing degraded samples. Thus in the 2001 World Trade Center disaster, victims were identified using SNP typing. 53 54

Impact of Genetic Identification in Justice 1

Genetic testing using DNA has been widely applicable to the field of justice. This method is being used for the following:

• Identification of accused and confirmation of guilt.
• Exculpation of innocent ones.
• Identification of persons who commit crimes or serial killers.
• Identification of victims in disasters.
• Establishing consanguinity in complex cases.

Currently, the DNA genotyping of all types of microtraces or biological traces containing nucleated cells is possible if they are not entirely demolished, either chemically or by bacteria. The DNA analysis is an important tool in solving caseworks in forensic medicine, such as establishing the custody of a child through paternity or maternity tests, identifying victims from crimes or disasters, or exonerating innocent people convicted to prison.

Conflict of Interest None declared.

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Thank you for your interest in the Stanford Genetics and Genomics Program! 

We are now offering two new programs: Foundations of Genetics and Genomics and Advanced Topics in Genetics and Genomics. 

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New technologies and breakthroughs in research are impacting the health and medicine industries and allowing for the use of personalized medicine, genetic engineering, and more. But what does this all mean, and how are these innovations occurring? Understanding the core concepts of genes and genomes will help you grasp how researchers and health professionals improve disease diagnosis, prevention, and treatment. From studying the function and structure of chromosomes to examining the genetic codes found in DNA, the Foundations of Genetics and Genomics track will give you the fundamental knowledge needed to understand how we can progress in our work targeting human health and disease and prepare you to explore more advanced topics.

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Technologies like CRISPR and stem cell therapies, and research such as those in the fields of epigenetics and biotechnology, are changing how we understand and develop solutions for medicine, biology, and agriculture. The fields of genetics and genomics are constantly evolving from personalized treatment plans based on your genes, lifestyle, and environment to manipulating DNA and editing genetic code. The Advanced Topics in Genetics and Genomics track allows you to dive deeper into the topics you care about and provides you with up-to-date information on cutting-edge research and technologies in the health and medicine industries today.

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Teaching team.

Russ Altman

Kenneth Fong Professor

Bioengineering

Russ Biagio Altman is the Kenneth Fong Professor of Bioengineering, Genetics, Medicine, Biomedical Data Science and (by courtesy) Computer Science) and past chairman of the Bioengineering Department at Stanford University. His primary research interests are in the application of computing and informatics technologies to problems relevant to medicine. He is particularly interested in methods for understanding drug action at molecular, cellular, organism and population levels. His lab studies how human genetic variation impacts drug response (e.g., http://www.pharmgkb.org/). Other work focuses on the analysis of biological molecules to understand the actions, interactions and adverse events of drugs (e.g., http://feature.stanford.edu/). He helps lead an FDA-supported Center of Excellence in Regulatory Science & Innovation.

Dr. Altman holds an AB from Harvard College, and an MD from Stanford Medical School, and a PhD in Medical Information Sciences from Stanford. He received the U.S. Presidential Early Career Award for Scientists and Engineers and a National Science Foundation CAREER Award. He is a fellow of the American College of Physicians (ACP), the American College of Medical Informatics (ACMI), the American Institute of Medical and Biological Engineering (AIMBE), and the American Association for the Advancement of Science (AAAS). He is a member of the National Academy of Medicine (formerly the Institute of Medicine, IOM). He is a past-president, founding board member, and a fellow of the International Society for Computational Biology (ISCB), and a past-president of the American Society for Clinical Pharmacology & Therapeutics (ASCPT). He has chaired the Science Board advising the FDA commissioner, served on the NIH Director’s Advisory Committee, and co-chaired the IOM Drug Forum. He is an organizer of the annual Pacific Symposium on Biocomputing, and a founder of Personalis, Inc. Dr. Altman is board certified in Internal Medicine and in Clinical Informatics. He received the Stanford Medical School graduate teaching award in 2000 and mentorship award in 2014.

Ximena Ares

Licensing Associate

Stanford University

Ximena Ares is a Licensing Associate at the Stanford Office of Technology Licensing (OTL). Dr. Ares received her Ph.D training in Molecular Biology in Buenos Aires, Argentina and completed her postdoctoral training at the University of California, San Francisco in Human Genetics. Later, she was a scientist at Geron Corporation and a Research Fellow at the Molecular Sciences Institute in Berkeley, California. She joined Stanford OTL in 2004, where she manages a portfolio of about 250 life sciences inventions, makes decisions about their intellectual property protection and negotiates license agreements and other contracts.

Euan Ashley

Roger and Joelle Burnell Professor

• School of Medicine

Born and raised in Scotland, Euan Angus Ashley graduated with 1st class Honors in Physiology and Medicine from the University of Glasgow. He completed medical residency and a PhD in molecular cardiology at the University of Oxford before moving to Stanford University where he trained in cardiology and advanced heart failure joining the faculty in 2006. His group is focused on the application of genomics to medicine. In 2010, he led the team that carried out the first clinical interpretation of a human genome. The paper published in the Lancet was the focus of over 300 news stories, became one of the most cited articles in clinical medicine that year, and was featured in the Genome Exhibition at the Smithsonian in DC. The team extended the approach in 2011 to a family of four and now routinely apply genome sequencing to the diagnosis of patients at Stanford hospital where Dr Ashley directs the Clinical Genome Service and the Center for Inherited Cardiovascular Disease. In 2013, Dr Ashley was recognized by the White House Office of Science and Technology Policy for his contributions to Personalized Medicine. In 2014, Dr Ashley became co-chair of the steering committee for the NIH Undiagnosed Diseases Network. Dr Ashley is a recipient of the National Innovation Award from the American Heart Association (AHA) and a National Institutes of Health (NIH) Director’s New Innovator Award. He is a member of the AHA Council on Functional Genomics, and the Institute of Medicine (IOM) of the National Academy of Sciences Roundtable on Translating Genomic-Based Research for Health. He is a peer reviewer for the NIH and the AHA as well as journals including Nature, the New England Journal of Medicine, the Lancet and the Journal of Clinical Investigation. He is co-founder of Personalis Inc, a genome scale genetic diagnostics company. Father to three young Americans, in his ‘spare’ time, he tries to understand American football, plays the saxophone, and conducts research on the health benefits of single malt Scotch whisky.

Laura Attardi

Catharine and Howard Avery Professor

Academic Appointments

• Professor, Radiation Oncology - Radiation and Cancer Biology
• Professor, Genetics
• Member, Bio-X
• Member, Child Health Research Institute
• Member, Stanford Cancer Institute

Israeli Society of Gene and Cell Therapy

Administrative Appointments

Founder of LogicBio Therapeutics, a gene therapy company (2014) Member of the American Society of Gene and Cell therapy (2011)

Honors & Awards

Presidential symposium lecturer at the annual meeting of the American Society for Gene and Cell Therapy (ASGCT) (2014) Recipient of the Child Health Research Institute (CHRI) fellowship (2013) 1st place- Stanford Genetics Department “Big Idea” Contest (2012)

Professional Education

MSc, Tel Aviv University, Tel Aviv, Israel, Genetics (2006) PhD, Tel Aviv University, Tel Aviv, Israel, Genetics (2011) Postdoctoral fellow, Stanford University (2011)

Michael Bassik

Associate Professor, Genetics

Chris Bjornson

Senior Scientific Researcher

Chris Bjornson holds a Ph.D. from the University of Washington and has served as a Research Associate for Calos Lab, Stanford University.

Anne Brunet

Michele And Timothy Barakett Endowed Professor

Anne Brunet is a Professor of Genetics at Stanford University. Dr. Brunet is interested in the molecular mechanisms of aging and longevity, with a particular emphasis on the nervous system. Her lab is interested in identifying pathways involved in delaying aging in response to external stimuli such as availability of nutrients and mates. She also seeks to understand the mechanisms that influence the rejuvenation of old stem cells. Finally, her lab has pioneered the naturally short-lived African killifish as a new model to explore the regulation of aging and age-related diseases.

Senior Scientist, Population Genetics

Katarzyna ("Kasia") Bryc is a Senior Scientist of Population Geneticist at 23andMe. Dr. Bryc has developed statistical models that leverage genetic data to learn about ancient human history and migrations, recent population admixture and other forces shaping the human genome. Her prior research illuminated the genetic population structure of Africans, and the complex admixture of African Americans and Hispanic/Latino populations. Dr. Bryc received a B.A. from Stanford University, and her M.S. and Ph.D. in Biometry at Cornell under Dr. Carlos Bustamante. Prior to joining 23andMe, she was a NIH Ruth L. Kirschstein National Research Fellow at Harvard Medical School with Dr. David Reich, where she developed statistical methods to infer genetic diversity from sequence data.

Michele Calos

Professor, Genetics (Emerita)

Professor, Genetics

Member, Bio-X

Member, Child Health Research Institute

Chair, School of Medicine Appointments and Promotions Committee (2008 - 2010)

• Searle Scholar Award, Searle Family Foundation (1986)
• Graduate Fellowship, National Science Foundation (1979)
• B.A., M.A., Oxford University, Zoology
• Ph.D., Harvard University, Biochemistry & Molecular Biology
• Postdoc., University of Geneva, Biologie Moleculaire

Community and International Work

• Member, Board of Directors, American Society of Gene and Cell Therapy
• Advisory Committee, United States Food and Drug Administration, Bethesda, Maryland

Jan Carette

Associate Professor, Microbiology and Immunology

Mildred Cho

Professor, Pediatrics and Medicine

Emily Crane

Senior Principle Scientific Researcher

Dr. Emily Crane grew up in Palo Alto, California.  She left the sunshine state to earn her B.A. in Biology from Carleton College in Northfield, Minnesota.  She returned to California in 2005, where she enrolled in graduate school at UC Berkeley and began training as a geneticist with Dr. Barbara Meyer. She studied the connection between gene expression regulation and chromosome structure, earning a Ph.D. in Molecular and Cell Biology in 2011.  While pursuing her doctorate she was able to first pair research with teaching as a Graduate Student Instructor for both lab and lecture courses. She is currently a NIH IRACDA postdoctoral fellow at Stanford University, which allows her to do research while also teaching as a visiting professor at San Jose State University.  At Stanford she works in Dr. Jin Li’s lab, where she is currently setting up a screening system to look for regulators of RNA editing. Dysregulation of RNA editing has been linked to neurological diseases and cancers, and its complete loss is lethal.  Emily is passionate about the rapidly expanding field of personal genomics, which will soon be an indispensable resource for improving patient health.

Christina Curtis

Professor, Genetics and Biomedical Data Science

The Curtis laboratory couples innovative experimental approaches, high-throughput omic technologies, statistical inference and computational modeling to interrogate the evolutionary dynamics of tumor progression and therapeutic resistance. To this end, Dr. Curtis and her team have developed an integrated experimental and computational framework to measure clinically relevant patient-specific parameters and to measure clonal dynamics. Her research also aims to develop a systematic interpretation of genotype/phenotype associations in cancer by leveraging state-of-the-art technologies and robust data integration techniques. For example, using integrative statistical approaches to mine multiple data types she lead a seminal study that redefined the molecular map of breast cancer, revealing novel subgroups with distinct clinical outcomes and subtype-specific drivers.

Barbara Dunn

Final Foods Inc.

Barbara Dunn is a Senior Biocuration Research Scientist in the Department of Genetics at Stanford University, currently working with the Saccharomyces Genome Database in the laboratory of Dr. J. Michael Cherry. She received her A.B. in Botany at Berkeley, and her Ph.D. in Biological Chemistry at Harvard University, where she studied yeast telomeres in the laboratory of Dr. Jack Szostak. Her recent research has focused on using whole-genome DNA and RNA sequencing, ChIP-Seq, array-CGH, and other “omics” methods to broadly explore evolution in yeast, and particularly the genome structures and genome evolution of industrial yeasts (lager, ale, wine, ethanol, bread).

Dianna Fisk

Senior Scientific Curator

Dianna received her B.S. in Biology from Marquette University and her Ph.D. in Molecular Biology, Cell Biology and Genetics from the University of Oregon, where she studied how nuclear and chromosomal gene expression are coordinately regulated, in the laboratory of Dr. Alice Barkan. She then went on to work as a Scientific Curator under Dr. David Botstein and Dr. J. Michael Cherry, at the Saccharomyces Genome Database (SGD). After 13 years of analyzing, assembling and organizing the vast amounts of detailed biochemical and genetic data available on yeast, she switched to interpretation of human genomics data and is now the Senior Biocurator at the Stanford Clinical Genomics Service.

Professor, Medicine and Genetics

Dr. Ford is a medical oncologist and geneticist at Stanford, devoted to studying the genetic basis of breast and GI cancer development, treatment and prevention. Dr. Ford graduated in 1984 Magna Cum Laude (Biology) from Yale University where he later received his M.D. degree from the School of Medicine in 1989. He was a internal medicine resident (1989-91), Clinical Fellow in Medical Oncology (1991-94), Research Fellow of Biological Sciences (1993-97) at Stanford, and joined the faculty in 1998. He is currently Associate Professor of Medicine (Oncology) and Genetics, and Director of the Stanford Cancer Genetics Clinic, at the Stanford University Medical Center. Dr. Ford’s research goals are to understand the role of genetic changes in cancer genes in the risk and development of common cancers. He studies the role of the p53 and BRCA1 tumor suppressor genes in DNA repair, and uses techniques for high-throughput genomic analyses of cancer to identify molecular signatures for targeted therapies. Recently, his team has identified a novel class of drugs that target DNA repair defective breast cancers, and have opened clinical trials at Stanford and nationally using these “PARP inhibitors” for the treatment of women with “triple-negative” breast cancer. Dr. Ford’s clinical interests include the diagnosis and treatment of patients with a hereditary pre-disposition to cancer. He runs the Stanford Cancer Genetics Clinic, that sees patients for genetic counseling and testing of hereditary cancer syndromes, and enters patients on clinical research protocols for prevention and early diagnosis of cancer in high-risk individuals.

Hinco Gierman

VP Precision Oncology

Julie Granka

Principal Scientist, Statistical Genetics

Julie Granka is a biologist and a statistician with expertise in genetics and evolution who currently serves as the Director of Personalized Genomics at Ancestry.com. Dr. Granka has experience developing and applying advanced computational tools to genetic data to understand population history and evolution. During fieldwork in South Africa, she collected and analyzed DNA samples from an African hunter-gatherer population to uncover the genetic basis of human height and skin pigmentation. Dr. Granka has also analyzed numerous other African populations to identify regions of the human genome where positive natural selection has occurred in recent history. In addition, she has studied the genetics of other organisms, including M. tuberculosis, the organism that causes tuberculosis. Dr. Granka received a B.S. in Biometry and Statistics from Cornell University where she worked with Dr. Carlos Bustamante. Afterwards, she received an M.S. in Statistics and a Ph.D. in Biology with Dr. Marcus Feldman at Stanford University.

Hank Greely

Deane F. and Kate Edelman Johnson Professor of Law

• Stanford Law School

Henry T. "Hank" Greely is the Deane F. and Kate Edelman Johnson Professor of Law and Professor, by courtesy, of Genetics at Stanford University. He specializes in ethical, legal, and social issues arising from advances in the biosciences, particularly from genetics, neuroscience, and human stem cell research. He chairs the California Advisory Committee on Human Stem Cell Research and the steering committee of the Stanford University Center for Biomedical Ethics, and directs the Stanford Center for Law and the Biosciences and the Stanford Program in Neuroscience and Society. He serves as a member of the NAS Committee on Science, Technology, and Law; the NIGMS Advisory Council, the Institute of Medicine’s Neuroscience Forum, and the NIH Multi-Center Working Group on the BRAIN Initiative. Professor Greely graduated from Stanford in 1974 and from Yale Law School in 1977. He served as a law clerk for Judge John Minor Wisdom on the United States Court of Appeals for the Fifth Circuit and for Justice Potter Stewart of the United States Supreme Court. He began teaching at Stanford in 1985.

Will Greenleaf

William Greenleaf is an Associate Professor in the Genetics Department at Stanford University School of Medicine, with a courtesy appointment in the Applied Physics Department. He is a member of Bio-X, the Biophysics Program, the Biomedical Informatics Program, and the Cancer Center. He received an A.B. in physics from Harvard University (summa cum laude) in 2002, and received a Gates Fellowship to study computer science for one year in Trinity College, Cambridge, UK (with distinction). After this experience abroad, he returned to Stanford to carry out his Ph.D. in Applied Physics in the laboratory of Steven Block, where he investigated, at the single molecule level, the chemo-mechanics of RNA polymerase and the folding of RNA transcripts. He conducted postdoctoral work in the laboratory of X. Sunney Xie in the Chemistry and Chemical Biology Department at Harvard University, where he was awarded a Damon Runyon Cancer Research Foundation Fellowship, and developed new fluorescence-based high-throughput sequencing methodologies. He moved to Stanford as an Assistant Professor in November 2011. Since beginning his lab, he has been named a Rita Allen Foundation Young Scholar, an Ellison Foundation Young Scholar in Aging (declined), a Baxter Foundation Scholar, and a Chan-Zuckerberg Investigator. His highly interdisciplinary research links molecular biology, computer science, bioengineering, and genomics a to understand how the physical state of the human genome controls gene regulation and biological state. Efforts in his lab are split between building new tools to leverage the power of high-throughput sequencing and cutting-edge microscopies, and bringing these new technologies to bear against basic biological questions of genomic and epigenomic variation. His long-term goal is to unlock an understanding of the physical “regulome” — i.e. the factors that control how the genetic information is read into biological instructions — profoundly impacting our understanding of how cells maintain, or fail to maintain, their state in health and disease.

Arthur Grossman

Professor (by courtesy), Biology

Arthur Grossman has been a Staff Scientist at The Carnegie Institution for Science, Department of Plant Biology since 1982, and holds a courtesy appointment as Professor in the Department of Biology at Stanford University. He has performed research across fields ranging from plant biology, microbiology, marine biology, ecology, genomics, engineering and photosynthesis and initiated large scale algal genomics by leading the Chlamydomonas genome project (sequencing of the genome coupled to transcriptomics). During his tenure at Carnegie, he mentored more than fifteen PhD students and approximately 40 post-doctoral fellows (many of whom have become very successful independent scientists at both major universities and in industry). In 2002 he received the Darbaker Prize (Botanical Society of America) for work on microalgae and in 2009 received the Gilbert Morgan Smith Medal (National Academy of Sciences) for the quality of his publications on marine and freshwater algae. In 2015 he was Vice Chair of the Gordon Research Conference on Photosynthesis and in 2017 was Chair of that same conference (Photosynthetic plasticity: From the environment to synthetic systems). He also gave the Arnon endowed lecture on photosynthesis in Berkeley in March of 2017, has given numerous plenary lectures and received a number of fellowships throughout his career, including the Visiting Scientist Fellowship - Department of Life and Environmental Sciences (DiSVA), Università Politecnica delle Marche (UNIVPM) (Italy, 2014), the Lady Davis Fellowship (Israel, 2011) and most recently the Chaire Edmond de Rothschild (to work IBPC in Paris in 2017-2018). He has been Co-Editor in Chief of Journal of Phycology and has served on the editorial boards of many well-respected biological journals including the Annual Review of Genetics, Plant Physiology, Eukaryotic Cell, Journal of Biological Chemistry, Molecular Plant, and Current Genetics. He has also reviewed innumerable papers and grants, served on many scientific panels that has evaluated various programs for granting agencies [NSF, CNRS, Marden program (New Zealand)] and private companies. He has also served on scientific advisory boards for both nonprofit and for profit companies including Phoenix Bioinformatics, Excelixis, Martex, Solazyme/TerraVia, Checkerspot and Phycoil.

Bethann Hromatka

Senior Director, Medical Affairs

Puma Biotechnology, Inc.

Natalie Jaeger

Senior Scientist

DKFZ German Cancer Research Center

Natalie is a Post-Doctoral Scientist in the laboratory of Professor Michael Snyder at Stanford University. Her duties include applying approaches comprising genome sequencing, transcriptomics, and proteomics to the analysis of human disease, to help understand the molecular basis of disease and aid the development of diagnostics and therapeutics.

Dennis Farrey Family Professor of Genetics

Mark A. Kay, MD, PhD, is the Director of the Program in Human Gene Therapy, and Professor in the Department of Pediatrics and Genetics at Stanford University School of Medicine. Dr. Kay is one of the founders of the American Society of Gene Therapy and served as its President in 2005-2006. Dr. Kay received the E. Mead Johnson Award for Research in Pediatrics in 2000 and was elected to the American Society for Clinical Investigation in 1997. He has organized many national and international conferences, including the first Gordon Conference related to gene therapy.

Kay is respected worldwide for his work in gene therapy for hemophilia and viral hepatitis. He is an Associate Editor of Human Gene Therapy and Molecular Therapy, and a member of the editorial boards of other peer-reviewed publications.

Here at Stanford University, Dr. Kay is involved in many committees, including the Administrative Panel on Biosafety Committee, and Chair of the Berry Foundation Committee. Along with his work in Gene Therapy Dr. Kay is an avid photographer and enjoys spending time outdoors photographing wildlife.

Professor, Developmental Biology (Emeritus)

Dr. Kim's lab's research focuses are in C. elegans aging, human aging, cell lineage analyzer, and ModENCODE.

Students, fellows, and faculty in the Department of Developmental Biology are working at the forefront of basic science research to understand the molecular mechanisms that generate and maintain diverse cell types in many different contexts, including the embryo, various adult organs, and the evolution of different species. Research groups use a wide array of cutting-edge approaches including genetics, genomics, computation, biochemistry, and advanced imaging, in organisms ranging from microbes to humans. This work has connections to many areas of human health and disease, including stem cell biology, aging, cancer, diabetes, arthritis, infectious disease, autoimmune disease, neurological disorders, and novel strategies for stimulating repair or regeneration of body tissues.

Jane Lebkowski

Regenerative Patch Technologies

President of Research and Development, Asterias

Joe Lipsick

Professor, Pathology and Genetics

Since participating in the initial identification of the protein product of the v-Myb oncogene as a postdoctoral fellow, Dr. Lipsick has dedicated his research career to understanding the function of the highly conserved Myb oncogene family. The laboratory has initially focused on the retroviral v-Myb oncogene and its cellular homologue, c-Myb. More recently, they have focused on the fruit fly Drosophila melanogaster as a model organism for understanding the human Myb oncogene family. They created the first null mutants of the sole Drosophila Myb gene, and showed that the absence of Myb resulted in mitotic abnormalities including chromosome condensation defects, aneuploidy, polyploidy, and aberrant spindle formation. In collaboration with the laboratory of Michael Botchan (UC Berkeley), they also showed that Myb was required for the site-specific initiation of DNA replication that occurs during chorion gene amplification in adult ovarian follicle cells. They themselves then showed that the absence of Myb causes a failure in the normal progression of chromosome condensation from heterchromatin to euchromatin. Most recently, they have found that Myb acts in opposition to repressive E2F and RB proteins to epigenetically regulate the expression of key components of the spindle assembly checkpoint and spindle pole regulatory pathways.

Kelly Ormond

Adjunct Professor, Genetics

Kelly Ormond is a genetic counselor (US ABGC certified) and ELSI researcher. She received her MS in Genetic Counseling from Northwestern University (1994) and a post-?graduate certificate in Clinical Medical Ethics from the MacLean Center at the University of Chicago (2001). She joined the Health Ethics and Policy Lab as a Senior Scientist in February 2021, and is an Adjunct Professor in the Department of Genetics at Stanford School of Medicine, Stanford University, California, USA

Matthew Porteus

Sutardja Chuk Professor

Dr. Porteus was raised in California and was a local graduate of Gunn High School before completing A.B. degree in “History and Science” at Harvard University where he graduated Magna Cum Laude and wrote an thesis entitled “Safe or Dangerous Chimeras: The recombinant DNA controversy as a conflict between differing socially constructed interpretations of recombinant DNA technology.” He then returned to the area and completed his combined MD, PhD at Stanford Medical School with his PhD focused on understanding the molecular basis of mammalian forebrain development with his PhD thesis entitled “Isolation and Characterization of TES-1/DLX-2: A Novel Homeobox Gene Expressed During Mammalian Forebrain Development.” After completion of his dual degree program, he was an intern and resident in Pediatrics at Boston Children’s Hospital and then completed his Pediatric Hematology/Oncology fellowship in the combined Boston Chidlren’s Hospital/Dana Farber Cancer Institute program. For his fellowship and post-doctoral research he worked with Dr. David Baltimore at MIT and CalTech where he began his studies in developing homologous recombination as a strategy to correct disease causing mutations in stem cells as definitive and curative therapy for children with genetic diseases of the blood, particularly sickle cell disease. Following his training with Dr. Baltimore, he took an independent faculty position at UT Southwestern in the Departments of Pediatrics and Biochemistry before again returning to Stanford in 2010 as an Associate Professor. During this time his work has been the first to demonstrate that gene correction could be achieved in human cells at frequencies that were high enough to potentially cure patients and is considered one of the pioneers and founders of the field of genome editing—a field that now encompasses thousands of labs and several new companies throughout the world. His research program continues to focus on developing genome editing by homologous recombination as curative therapy for children with genetic diseases but also has interests in the clonal dynamics of heterogeneous populations and the use of genome editing to better understand diseases that affect children including infant leukemias and genetic diseases that affect the muscle. Clinically, Dr. Porteus attends at the Lucille Packard Children’s Hospital where he takes care of pediatric patients undergoing hematopoietic stem cell transplantation.

Vice President of Program Management

Jose loves talking about science, especially to non-scientists. He has been involved in science outreach and education since he first learned of the simplicity and beauty of the structure of DNA. Naturally, Jose went on to graduate school at Stanford where he received a M.A. in Education and a Ph.D. in Developmental Biology. His doctoral work focused on understanding how epigenetic regulators control the biology of adult stem cells. For example, when some of these regulators misbehave, stem cells are lost to the detriment of the tissue they normally maintain. Why? How? Well, Jose still doesn’t know, but he hopes his work helped add one more piece to the never-ending puzzle of scientific research. After finishing his Ph.D., Jose moved to St. Louis, MO and joined Monsanto as part of a rotational leadership program, where he’s been doing a number of fun things both close and far from his science background. His year-long rotations have spanned biotechnology regulation and policy, global technology strategy, and development of molecular detection technologies. All of these rotations have complemented each other and contributed to his passion for sustainably and safely increasing food productivity and agricultural efficiency. Jose’s favorite activity is backpacking and talking about how light his backpack is over an open fire under the Milky Way-splattered sky of the Sierra Nevada. When he’s not outdoors, which is more frequent than he’d like, Jose enjoys good beer (peanut butter chocolate milk stout is real and delicious), good music (Tool), and thoughtful discussions involving science, education and politics.

Jonathan Pritchard

Bing Professor of Population Studies

Jonathan Pritchard is a Professor of Genetics and Biology at Stanford University. He received his BSc in Biology and Mathematics from Penn State University in 1994, and his PhD in Biology at Stanford in 1998. After that he moved to a postdoc in the Department of Statistics at Oxford University and then to his first faculty job at the University of Chicago in 2001. He has been an Investigator of the Howard Hughes Medical Institute since 2008.

Li (Stanley) Qi

Associate Professor

Maria Grazia Roncarolo

George D. Smith Professor

Maria Grazia Roncarolo, MD is the co-director of the Institute for Stem Cell Biology and Regenerative Medicine, the George D. Smith Professor in Stem Cell and Regenerative Medicine, Professor of Pediatrics and of Medicine (blood and marrow transplantation), chief of the Division of Pediatric Stem Cell Transplantation and Regenerative Medicine, and co-director of the Bass Center for Childhood Cancer and Blood Diseases.

Dr. Roncarolo leads efforts to translate scientific discoveries in genetic diseases and regenerative medicine into novel patient therapies, including treatments based on stem cells and gene therapy. A pediatric immunologist by training, she earned her medical degree at the University of Turin, Italy. She spent her early career in Lyon, France, where she focused on severe inherited metabolic and immune diseases, including severe combined immunodeficiency (SCID), better known as the "bubble boy disease." Dr. Roncarolo was a key member of the team that carried out the first stem cell transplants given before birth to treat these genetic diseases.

While studying inherited immune diseases, Dr. Roncarolo discovered a new class of T cells. These cells, called T regulatory type 1 cells, help maintain immune system homeostasis by preventing autoimmune diseases and assisting the immune system in tolerating transplanted cells and organs. Recently, Dr. Roncarolo completed the first clinical trial using T regulatory type 1 cells to prevent severe graft-versus-host disease in leukemia patients receiving blood-forming stem-cell transplants from donors who were not genetic matches.

Dr. Roncarolo worked for several years at DNAX Research Institute for Molecular and Cellular Biology in Palo Alto, where she contributed to the discovery of novel cytokines, cell-signaling molecules that are part of the immune response. She studied the role of cytokines in inducing immunological tolerance and in promoting stem cell growth and differentiation.

Dr. Roncarolo developed new gene-therapy approaches, which she pursued as director of the Telethon Institute for Cell and Gene Therapy at the San Raffaele Scientific Institute in Milan. She was the principal investigator leading the successful gene therapy trial for SCID patients who lack an enzyme critical to DNA synthesis, which is a severe life-threatening disorder. That trial is now considered the gold standard for gene therapy in inherited immune diseases. Under her direction, the San Raffaele Scientific Institute has been seminal in showing the efficacy of gene therapy for otherwise untreatable inherited metabolic diseases and primary immunodeficiencies.

Dr. Roncarolo's goal at Stanford is to build the teams and infrastructure to move stem cell and gene therapy to the clinic quickly and to translate basic science discoveries into patient treatments. In addition, her laboratory continues to work on T regulatory cell-based treatments to induce immunological tolerance after transplantation of donor tissue stem cells. In Nature Medicine, Dr. Roncarolo recently published her discovery of new biomarkers for T regulatory type 1 cells, which will be used to purify the cells and to track them in patients. She also is investigating genetic chronic inflammatory and autoimmune diseases that occur due to impairment in T regulatory cell functions.

Julien Sage

Elaine and John Chambers Professor

Dr. Sage studied biology at the École Normale Supérieure in Paris and did his PhD at the University of Nice and post-doctoral training at MIT. He is currently the Elaine and John Chambers Professor in Pediatric Cancer and a Professor of Genetics at Stanford University where he serves as the co-Director of the Cancer Biology PhD program. For his work on cancer genetics, he has been awarded a Damon Runyon Cancer Research Foundation Scholar Award, a Leukemia and Lymphoma Society Scholar Award, and an R35 Outstanding Investigator Award from the National Cancer Institute. Dr. Sage’s work has focused on the RB tumor suppressor pathway and how inactivation of RB promotes tumorigenesis in children and adult patients. In the past few years, the Sage lab has developed pre-clinical models for small cell lung cancer, an RB-mutant cancer, and has used these models to investigate signaling pathways driving the growth of this cancer type and to identify novel therapeutic targets in this recalcitrant cancer.

Gavin Sherlock

Associate Professor,  Genetics Member,  Stanford Cancer Institute  

Army Breast Cancer Research Fellowship, Department of Defence (1997-1998) Cold Spring Harbor Fellowship, Cold Spring Harbor Laboratory (1996-1997) Prize Studentship, The Wellcome Trust (1991-1994) John Buckley Entrance Scholarship for Science, Manchester University (1988-1991)

B.Sc., Manchester University, Genetics (1991) Ph.D., Manchester University, Molecular Biology (1994)

Michael Snyder

Stanford W. Ascherman Professor of Genetics

Michael Snyder is the Stanford Ascherman Professor and Chair of Genetics and the Director of the Center of Genomics and Personalized Medicine. Dr. Snyder received his Ph.D. training at the California Institute of Technology and carried out postdoctoral training at Stanford University.

He is a leader in the field of functional genomics and proteomics, and one of the major participants of the ENCODE project. His laboratory study was the first to perform a large-scale functional genomics project in any organism, and has launched many technologies in genomics and proteomics. These including the development of proteome chips, high resolution tiling arrays for the entire human genome, methods for global mapping of transcription factor binding sites (ChIP-chip now replaced by ChIP-seq), paired end sequencing for mapping of structural variation in eukaryotes, de novo genome sequencing of genomes using high throughput technologies and RNA-Seq. These technologies have been used for characterizing genomes, proteomes and regulatory networks. Seminal findings from the Snyder laboratory include the discovery that much more of the human genome is transcribed and contains regulatory information than was previously appreciated, and a high diversity of transcription factor binding occurs both between and within species.

He has also combined different state-of–the-art “omics” technologies to perform the first longitudinal detailed integrative personal omics profile (iPOP) of person and used this to assess disease risk and monitor disease states for personalized medicine. He is a cofounder of several biotechnology companies, including Protometrix (now part of Life Tehcnologies), Affomix (now part of Illumina), Excelix, and Personalis, and he presently serves on the board of a number of companies

Barry Starr

Senior Science Writer

Barry received his B.S. from CSU, Chico in Biochemistry. He then went on to graduate school at the University of Oregon where he earned his Ph.D. in biochemistry with Dr. Diane Hawley. During his six years, Barry worked on many aspects of basal RNA polymerase II transcription but Barry’s main contribution to the field was showing that the TATA-binding protein (TBP) recognized its AT-rich sequence entirely through the minor groove. This was deemed impossible at the time. Barry then went on to do a postdoc with Dr. Keith Yamamoto at UCSF where he worked on glucocorticoid receptor mutants. After that Barry entered the world of biotechnology where he was employed at three different companies designing small molecules that could specifically alter gene expression. He then stepped off the standard science track and took a job with Stanford University’s Department of Genetics running an outreach program called Stanford at The Tech. Over the next ten or so years Barry helped design and update a museum exhibition (Genetics: Technology With a Twist), a website (Understanding Genetics), have given over 100 graduate students and postdoctoral fellows the opportunity to improve their communication skills, and have written hundreds of blogs both for the Understanding Genetics website and for KQED QUEST, a local PBS television show.

Lars Steinmetz

Dieter Schwarz Foundation Endowed Professor

Lars Steinmetz studied molecular biophysics and biochemistry at Yale University and conducted his Ph.D. research on genome-wide approaches to study gene function and natural phenotypic diversity at Stanford University. After a brief period of postdoctoral research at the Stanford Genome Technology Center, where he worked on functional genomic technology development, he moved to Europe in 2003. At the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, he started his own group, focused on applying functional genomic approaches and high-throughput methods to study complex traits, transcription and the mitochondrial organelle at a systems level. In parallel, he maintained a focused group at the Stanford Genome Technology Center working on technology development. Since 2009, Lars acted as Joint Head of the department of Genome Biology at EMBL.

In October 2013 Lars became Professor of Genetics at Stanford University and Co-Director of the Stanford Genome Technology Center. His lab develops and applies cutting-edge technologies to investigate the function and mechanism of transcription, the genetic basis of complex phenotypes and the genetic and molecular systems underpinning disease. Their ultimate goal is to enable the development of personalized, preventative medicine.

In parallel to his research activities at Stanford, Lars continues to lead his lab at EMBL and acts as Associate Head of Genome Biology and Senior Scientist at EMBL. His Stanford and EMBL labs collaborate very closely.

In addition to his academic endeavours, Lars is a consultant and board member of several companies, advising in the areas of genetics and personalized medicine.

Ruth Tennen

Senior Product Scientist I

Ruth Tennen picked up her first pipette as a summer high-school student in a lab at the University of Connecticut Health Center. She received her bachelor’s degree in molecular biology from Princeton University and her Ph.D. in cancer biology from Stanford University. Her graduate work examined the intersection between epigenetics and disease: how human cells squeeze two meters of DNA into their nuclei while keeping that DNA accessible and dynamic, and how DNA packaging goes awry during cancer and aging. As a graduate student, Ruth shared her love of science by teaching hands-on classes to students at local schools, hospitals, and museums and by blogging on the San Jose Tech Museum’s website.

After completing her Ph.D., Ruth moved to Washington, DC to serve as an AAAS Science & Technology Policy Fellow. Working in the Bureau of African Affairs at the U.S. Department of State, she collaborated with colleagues in DC and at U.S. Embassies abroad to promote scientific capacity building, science education, and entrepreneurship in sub-Saharan Africa. She managed the Apps4Africa program, which challenges young African innovators to develop mobile apps that tackle problems in their communities. She also traveled to South Africa and Ghana, where she delivered lectures and workshops designed to spark the scientific excitement of young learners.

Ruth is currently a Product Scientist at 23andMe. In her free time, Ruth enjoys running, reading, quoting Seinfeld, and cheering for the UConn Huskies.

Sören Turan

Bayer Pharmaceuticals

Postdoc, Genetics

DFG Fellowship (2013)

• Diploma TU-Braunschweig (Germany) 2007
• Dr. rer. nat. Medical School Hannover (Germany)

Research Interest: Gene Therapy, (Stem) Cell Therapy, Genome Engineering, CRISPR/Cas9 gene editing

Monte Winslow

Associate Professor of Genetics and of Pathology

Monte Winslow is an Associate Professor of Genetics and Pathology at Stanford University.

Stacey Wirt Taylor

Commercial Planning Manager

Adaptive Biotechnologies Corp.

Stacey received her B.A. in Biology from Wellesley College and her Ph.D. in Cancer Biology from Stanford University. Her dissertation focused on uncovering new mechanisms for cell cycle control in mouse embryonic stem cells and neural progenitors. She went on to complete a post-doctoral fellowship in genome engineering, where she worked to develop nuclease technology for editing disease-causing mutations in human stem cells. In her spare time, Stacey volunteers at the San Jose Tech Museum, likes to camp and hike throughout Northern California, and is an avid photographer.

Simon H. Stertzer, MD, Professor

Joseph C. Wu, MD, PhD is Director of the Stanford Cardiovascular Institute and Professor in the Department of Medicine (Cardiology) and Department of Radiology (Molecular Imaging Program) at the Stanford University School of Medicine. Dr. Wu received his medical degree from Yale. He completed his medicine internship, residency and cardiology fellowship training at UCLA followed by a PhD (Molecular & Medical Pharmacology) at UCLA. Dr. Wu has received several awards, including the Burroughs Wellcome Foundation Career Award in Medical Sciences, Baxter Foundation Faculty Scholar Award, AHA Innovative Research Award, AHA Established Investigator Award, NIH Director’s New Innovator Award, NIH Roadmap Transformative Award, and Presidential Early Career Award for Scientists and Engineers given out by President Obama. He is on the editorial board of Journal Clinical Investigation, Circulation Research, Circulation Cardiovascular Imaging, JACC Imaging, Human Gene Therapy, Molecular Therapy, Stem Cell Research, and Journal of Nuclear Cardiology. He is a Council Member for the American Society for Clinical Investigation and a Scientific Advisory Board Member for the Keystone Symposia. His clinical activities involve adult congenital heart disease and cardiovascular imaging. His lab research focuses on stem cells, drug discovery, and molecular imaging.

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DNA Analyst Job Description, Education Requirements & Salary

Imagine being the only one who can finally put a criminal behind bars. The best evidence in a decades-old murder case could come from the work done in a lab, and a DNA analyst could finally bring a violent criminal to justice while giving a family closure. At the end of a long day doing meticulous and sometimes grueling work, these can be the rewards of pursuing a career as a DNA analyst.

In recent years, DNA analysis has risen as a top field of interest for those who want to put their laboratory skills to work in the service of criminal justice. Forensic science technicians with DNA analysis skills have been able to bring criminals to justice or help kidnapped children locate their birth parents through DNA samples from direct-to-consumer testing companies such as 23andMe and AncestryDNA.

By comparing DNA results from spit tests with DNA samples collected from crime scenes or law enforcement, law enforcement has irrefutable evidence of innocence or guilt. While this practice is controversial, public support is high for using DNA genomes to solve crimes. Results from the Pew Research Center show that 48 percent of Americans surveyed agreed that DNA testing companies should share customers’ genetic data with law enforcement to solve crimes.

While some lawmakers propose including a consent option for consumers to share their DNA data with law enforcement, the practice of analyzing spit sample data against crime scene evidence has proven to be effective. In 2020, the Pew Charitable Trusts reported that since May 2018, public databases such as GEDmatch have helped law enforcement identify 83 crime suspects and 11 homicide victims and solve at least 70 violent crimes in the United States by the end of 2019.

DNA analysts are responsible for the analysis of DNA evidence collected from a crime scene. A typical day in this profession includes time spent in a laboratory developing DNA profiles. DNA analysts could use evidence from those profiles to exonerate or implicate someone in a crime. Once evidence is analyzed, the DNA specialist will create detailed and accurate reports and will often be required to spend time in the courtroom testifying the evidence.

While the work may not be the most glamorous, front-page position, this can be a gratifying career for those with the right temperament and skills.

Career Outlook for Forensic DNA Analysts

The employment outlook for those in the field of forensic science and DNA analysis is quite good. According to data from the US Bureau of Labor Statistics (BLS 2023), opportunities in the field of forensic science technology should grow at a rate of 13 percent between 2022 and 2032. Currently, there are about 18,500 jobs in the field, which is predicted to increase by about 2,300 jobs in that decade.

Pursuing a career in DNA analysis is a wise investment of time and money in a career. The demand for DNA specialists is likely to keep growing since forensic DNA evidence can be quite precise and definitive and has been pivotal in establishing the innocence or guilt of criminal suspects. The majority of DNA analysts work directly with police departments at the local, state, and federal levels and private companies that offer those law enforcement agencies services.

Here are the industries with the highest employment levels of forensic science technicians ( BLS May 2022):

• Local Government: 10,650 forensic science technicians employed
• State Government: 4,530
• Architectural, Engineering, and Related Services: 1,190
• Medical and Diagnostic Laboratories: 330
• Colleges, Universities, and Professional Schools: 260

Salary Range for Forensic DNA Analysts

DNA analyst salaries can vary quite a bit based on several different factors. The Bureau of Labor Statistics (BLS May 2022) reported that the median salary for forensic science techs, including DNA analysts, was $63,740. In the same year, the average annual salary was $69,260 for the 17,590 techs employed nationally (BLS May 2022).

Here are the average annual salary percentiles for forensic science technicians in the U.S. (BLS May 2022)—the latest data available as of February 2024:

• 10th percentile: $39,710
• 25th percentile: $49,320
• 50th: percentile: $63,740
• 75th percentile: $82,160
• 90th percentile: $104,330

Factors that could affect salaries available to DNA analysts include location, the type of work that one is doing, and the department for which one works. The number of years on the job and types of degrees and advanced certificates held could be other factors.

How to Become a DNA Analyst

The DNA analyst job is highly technical and requires specific education and training that cannot be learned on the job. While not every DNA analyst will take the same path in pursuit of a career, the following are the most common steps:

• Step 1: Earn a high school diploma (four years) – A high school diploma is required for any DNA analyst. Students should focus mainly on natural science courses such as biology and chemistry to gain admission into an accredited undergraduate program.
• Step 2: Pursue a relevant bachelor’s degree (four years) – Because DNA analysis is so dependent on meticulous lab work, DNA analysts must have a minimum of a bachelor’s degree , with natural science degrees preferred. Prospective DNA analysts should consider a degree in biology, chemistry, or a Forensic Education Programs Accreditation Commission (FEPAC) accredited forensic science program. Eastern Kentucky University offers a FEPAC-accredited bachelor’s degree in forensic science. This program was established in 1974, making it one of the oldest of its kind. This program teaches students to perform analyses using scientific methods, write reports for legal documentation, and prepare testimonies for courtroom cases.
• Step 3: Seek entry-level employment (timeline varies) – After earning a bachelor’s degree, graduates may be able to find entry-level jobs in a lab, an opportunity that provides more hands-on experience and builds on classroom training.
• Step 4: Consider advanced education (two to four years) – Some DNA analysts may choose to pursue an advanced degree, such as a master’s degree in forensic DNA and serology or even a PhD, depending on the type of long-term careers an individual has. West Virginia University was the first institution in the United States to offer bachelor’s, master’s, and doctoral degrees in forensic science. Advanced degrees from this FEPAC-accredited institution teach advanced techniques and concepts in a multidisciplinary curriculum that combines science with criminalistics and communication. Graduates are expected to pursue and publish research on cutting-edge issues and frequently present at forensic science conferences.
• Step 5: Obtain professional certification – Professional certification, such as earning a diplomate or a fellow status from the American Board of Criminalistics is another way that experienced DNA analysts can grow their career opportunities.

A high school graduate dedicated to this career path may be able to find entry-level work after just four years of undergraduate education. Many undergraduate programs offer internships with local law enforcement agencies that allow students to gain experience and make professional connections while still completing their degrees.

DNA Analyst Job Requirements, Tasks, and Responsibilities

Some of the traits that those who are in the DNA analysis field need to have include:

• Attention to detail
• Ability to solve problems
• Analytical thinking
• Good speaking and writing skills

Even though DNA analysts work in a lab setting, they still need to make sure that they can work well in a team environment. Most of the time, those working in the lab will have a regular workday schedule, but the role may also require late hours or travel to a crime scene or complete an analysis to make a deadline. In some cases, the DNA analyst job position may require a presentation of findings in a courtroom setting.

These skills will help DNA analysts to accomplish their daily tasks best and tend to their responsibilities, such as:

• Working with DNA collected from a crime scene to identify unique DNA profiles
• Comparing collected DNA to existing samples
• Testifying to findings in court
• Writing reports on findings
• Maintaining a chain of custody for DNA evidence
• Communicating with law enforcement as to findings

DNA Analyst Certification and Licensure

Unlike some professions, DNA analysts have no legal certification or licensure requirement. However, those who want to advance in their career may find it helpful to pursue professional certification after gaining some experience.

Laboratory certification is recommended to prove knowledge of procedures and policies for prospective employers. The American Society for Clinical Pathology (ASCP) offers board certification for medical laboratory technicians and other related positions. The ASCP details exam eligibility pathways and content on its website.

One option for DNA analysts is to become an American Board of Criminalistics (ABC) Diplomate . To become a fellow of the ABC, DNA analysts can submit to a specialty test in molecular biology specific to criminalistics. Applicants must have at least two years of experience to qualify for this designation.

The ABC also offers a Forensic DNA Certification exam for those wanting to prove their professional qualifications as a DNA analyst. The exam is designed for persons employed in forensic science laboratories and covers 75 questions in two hours and 15 minutes.

Since forensic science varies widely in its disciplines and DNA can be analyzed through several scientific collection methods, many forensic science organizations provide professional support and certification. The Forensic Specialties Accreditation Board (FSAB) lists accredited conformity assessment bodies, known as CABs. While it may not be necessary for licensure at the state level, DNA analysts can earn certification through these organizations:

• American Board of Criminalistics (ABC)
• American Board of Medicolegal Death Investigators (ABMDI)
• American Board of Forensic Toxicology (ABFT)
• Board of Forensic Document Examiners (BFDE)
• American Board of Forensic Document Examiners (ABFDE)
• International Board of Forensic Engineering Sciences (IBFES)
• American Board of Forensic Odontology (ABFO)
• American Board of Forensic Anthropology (ABFA)
• International Association of Computer Investigative Specialists (IACIS)
• Certified Fire Investigator Board, International Association of Arson Investigators (IAAI)

Rachel Drummond, MEd

Rachel Drummond has given her writing expertise to ForensicsColleges.com since 2019, where she provides a unique perspective on the intersection of education, mindfulness, and the forensic sciences. Her work encourages those in the field to consider the role of mental and physical well-being in their professional success.

Rachel is a writer, educator, and coach from Oregon. She has a master’s degree in education (MEd) and has over 15 years of experience teaching English, public speaking, and mindfulness to international audiences in the United States, Japan, and Spain. She writes about the mind-body benefits of contemplative movement practices like yoga on her blog , inviting people to prioritize their unique version of well-being and empowering everyone to live healthier and more balanced lives.

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North Carolina Office of Indigent Defense Services

Elizabeth Johnson, Ph.D.

Additional info.

Course Catalog 2023-2024

Dna analysis.

For the Forensic DNA Analysis area of emphasis, the student must complete the following courses in addition to the core curriculum:

Students considering a career in Forensic DNA Analysis are encouraged to enroll in FSC 650 Special Topics , Crime Laboratory Technical Assistance (Fall, 2 credits; and Spring, 2 credits).

Total including core requirements 46 hrs.

College of Medicine

Department of Pathology, Microbiology and Immunology

Molecular Forensics

•   Anatomic Pathology
•   Clinical Pathology
•   Blood, Transfusion & Tissue Service
•   Biologics Production Facility
•   Chemistry
•   Coagulation
•   Flow Cytometry
•   Histocompatibility
•   Microbiology & Virology
•   Molecular Diagnostics
•   Molecular Forensics
•   Pathology Consultation
•   Programs
•   Clinical Services Contacts
•   Regional Pathology Services

Human DNA Identification Laboratory

The Human DNA Identity lab provides methods for determining the person of origin for biological specimens. These methods can be applied to resolve issues of parentage, as well as suspected tissue or body fluid specimen misidentification. We also provide testing of physical evidence for law enforcement agencies and private attorneys. 

The Human DNA Identification Laboratory utilizes industry standard methods compliant with ANSI National Accreditation Board (ANAB)/ISO17025:2017 for Forensic DNA testing. Our laboratory is able to upload evidentiary DNA profiles into CODIS (Combined DNA Index System) to compare against other cases and convicted offenders.  Application of our methodology can be used to determine identity in the following circumstances:

• Paternity / parentage - This service is provided to Law Enforcement ONLY
• Physical evidence for law enforcement agencies and private attorneys
• Patient tissue / body fluid misidentification

Our laboratory has provided DNA-based testing since 1996.  We continue to be on the forefront of identity testing, soon being able to offer next-generation sequencing testing for the purposes of ancestry analysis, including hair and eye color.

Pathology Materials Testing Our testing may be used to resolve concerns regarding mislabeled pathology samples (e.g. tissue, body fluids), tissue 'floaters', or concerns about specimen mix-ups.  We are able to provide identity on fresh, as well as methanol fixed, and formalin fixed tissues.  We are also able to utilize formalin-fixed paraffin embedded tissues, unstained slides, and stained slides; tissue on slides is consumed during the extraction process.

• Tissue Submittal information
• Testing Requisition form

Research Services Our laboratory provides testing to verify tissue culture cell line identity for basic science researchers. 

Confidential Testing Information given about the parties being tested is strictly confidential and will not be released to anyone without your written authorization.

Laboratory Accreditation The Human DNA Identification Laboratory is accredited by the ANAB/ISO 17025:2017 for Forensic DNA testing.  The Director is boarded by the American Board of Pathologists in the areas of Anatomic and Clinical Pathology, as well as Molecular Genetic Pathology. 

Test Samples A variety of specimen sources may be submitted for DNA-based identification including, but not limited to:

• Body fluids (e.g. blood, semen, saliva, etc.)
• Buccal swabs
• Personal items (e.g. clothing, toothbrush, etc.)
• Tissues (e.g. biopsy, liver, bone marrow, etc.)
• Formalin fixed tissues, FFPE blocks, microscopy slides (stained or unstained)
• Cell line verification

For questions regarding Forensic DNA Testing Mellissa Helligso, MT (ASCP), MFS Manager, Technical Lead, Forensic DNA Analyst Human DNA Identification Laboratory University of Nebraska Medical Center Office (402) 559-6289, Lab (402)559-7220

Law Enforcement and Attorney Testing and Fees:

• $850 per sample
• $300 per hour for testimony
• $300 per hour for outside report review
• $150 per disclosure book
• $150 per hour additional document request
• $2,800 per sample for FIGG genetic testing (includes extraction)

  Pathology and Research Testing:

• $1100 per sample for pathology material identification
• $250 per cell line identification

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https://www.nist.gov/people/john-butler

John Butler (Fed)

Nist fellow & special assistant to the director for forensic science.

John M. Butler is an internationally recognized expert in forensic DNA analysis and holds a Ph.D. in analytical chemistry from the University of Virginia. He has written five textbooks on Forensic DNA Typing (2001, 2005, 2010, 2012, and 2015) and given hundreds of invited talks to scientists, lawyers, and members of the general public throughout the United States and in more than 25 other countries so far.

Dr. Butler’s research, first conducted at the FBI Laboratory and now at the National Institute of Standards and Technology (NIST), pioneered the methods used today worldwide for DNA testing in criminal casework, paternity investigations, and many DNA ancestry assessments.  He has been honored in multiple White House ceremonies (2002 and 2015) for his work in advancing DNA testing.

In 2011, ScienceWatch.com named him the worldwide high-impact author in legal medicine and forensic science over the previous decade. A 2020 Stanford University analysis of eight million scientists published since 1960 put Dr. Butler as #7 (#1 from the United States) out of 10,159 researchers worldwide in the subcategory of legal medicine and forensic science. He has received the Gold Medal (2008) and Silver Medal (2002) from the U.S. Department of Commerce, the Scientific Prize of the International Society for Forensic Genetics (2003), the Paul L. Kirk Award from the American Academy of Forensic Sciences (2017), and the Magnus Mukoro Award for Integrity in Forensic Science from the NYC Legal Aid Society (2020).

Dr. Butler is a NIST Fellow (highest scientific rank at NIST) and Special Assistant to the Director for Forensic Science in the NIST Special Programs Office. He served as the Vice-Chair of the National Commission on Forensic Science from 2013 to 2017. In 2019, he was elected the President of the International Society for Forensic Genetics, which has 1300 members in 84 countries. 

Scientific Awards

• National Research Council Postdoctoral Fellowship, NIST 1995-97
• British Medical Association Medical Book Competition, Highly Commended, 2001
• Presidential Early Career Award for Scientists and Engineers, 2002
• U.S. Department of Commerce Silver Medal, 2002
• Scientific Prize of the International Society of Forensic Genetics, 2003
• Finalist for the Service to America Medals 'Call to Service' Award, 2004
• Honored Alumnus for BYU's College of Physical and Mathematical Sciences, October 2005
• NIST Fellow, March 2008
• The Arthur S. Flemming Award (Applied Science, Engineering and Mathematics 2007), June 2008
• Department of Commerce Gold Medal Award, 2008
• Edward Uhler Condon Award, December 2010
• Science Watch, #1 world-wide high-impact author in legal medicine and forensic science over the last decade, July 2011
• Presidential Rank Award, December 2015 
• American Academy of Forensic Sciences (AAFS) Criminalistics Section's Paul L. Kirk Award, February 2017
• Magnus Mukoro Award for Integrity in Forensic Science, January 2020

Journal Editorship

• Associate Editor of Forensic Science International: Genetics (2006-2019)
• Editorial Board member of the Journal of Forensic Sciences (2010-present)
• Forensic DNA Section Editor for Encyclopedia of Forensic Sciences, 2nd Edition (Elsevier Academic Press) (2012-2013)
• Forensic Science International Genetics Supplement Series Editor (2019-present)

Memberships and Committees

• International Society of Forensic Genetics, Member (2001-present), Representative of the Working Groups (2016-2019), President (2020-present)
• American Academy of Forensic Sciences (AAFS), Member Criminalistics Section (2010-present), Fellow (2019-present)
• International Association for Identification (IAI) (2014-present)
• Academy Standards Board (ASB) DNA Consensus Body (2015-present)
• ATCC Committee on Authentication of Human Cell Lines: Standardization of STR Profiling (2009-2012; 2016-present)
• AABB Relationship Testing Standards Committee (2020-present)
• ISFG 2022 Local Organizing Committee Member (2020-present)
• European Academy of Forensic Sciences (EAFS) 2022 Meeting Scientific Committee Member and DNA Track Chair (2021-present)
• FBI's Scientific Working Group on DNA Analysis Methods (SWGDAM), Invited Guest (2000-2019)
• Organization of Scientific Area Committees for Forensic Science (OSAC): SAC Biology/DNA (2014-2019)
• National Commission on Forensic Science (NIST Vice-Chair) (2013-2017)

National Institute of Justice World Trade Center Kinship and Data Analysis Panel (WTC KADAP) (2002-2005)

Department of Defense Quality Assurance Oversight Committee for DNA Analysis (2003-2012)

Hurricane Katrina Victim Identification DNA Expert Group (2005-2006)

International Committee of the Red Cross (ICRC) DNA Expert Panel (2008)

NIJ Expert System Testbed (NEST) Project Team Advisor (2005-2009)

NIST Research Library Advisory Board (2007-2010)

Virginia Department of Forensic Science Science Advisory Committee (2009-2013)

Publications

Inconclusive decisions and error rates in forensic science, bitemark analysis: a nist scientific foundation review, recent advances in forensic biology and forensic dna typing: interpol review 2019-2022, digital investigation techniques: a nist scientific foundation review, summary of published criticisms of bitemark foundations and responses by forensic odontologists.

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We help solve crimes.

The future of forensic dna analysis and its impact on law enforcement.

Introduction

Forensic DNA analysis has made remarkable strides since its inception in the 1980s, and its potential for shaping criminal investigations continues to grow exponentially. Today, DNA profiling is often the linchpin of a criminal case, capable of identifying perpetrators and vindicating the innocent. In this article, we will explore the current landscape of DNA profiling, delve into the exciting advancements on the horizon, and examine how these innovations will impact law enforcement. Join us as we embark on a journey through the future of forensic DNA analysis.

DNA Profiling Process Today

Today, juries have come to expect DNA evidence as a vital component in recent criminal investigations. The primary method employed is Short Tandem Repeat (STR) analysis, which examines specific regions of total human DNA. Other existing techniques supplement STR analysis, ensuring a comprehensive approach to profiling. Databases such as the Combined DNA Index System (CODIS) have revolutionized the field by enabling cross-referencing of DNA profiles across various jurisdictions and aiding in identifying potential suspects.

DNA Profiling of the Future

Advancements in technology hold immense promise for the future of forensic DNA analysis. Detecting and building profiles from degraded or smaller DNA samples, such as touch DNA, continues to become increasingly feasible. Innovations in the field are leading to faster, cheaper, and more accessible methods, greatly enhancing the ability to extract valuable genetic information. Next Generation Sequencing (NGS) and Forensic Genetic Genealogy (FGG) are two notable breakthroughs revolutionizing DNA profiling.

Next Generation Sequencing/Massive Parallel Sequencing

Next Generation Sequencing (NGS) or Massive Parallel Sequencing: NGS is a transformative technology that enables the parallel sequencing of multiple DNA samples, allowing for rapid analysis and increased sensitivity. This approach holds enormous potential for forensic DNA analysis as it can generate vast amounts of genetic data from minute samples. Data that in the past required multiple tests to obtain can be gathered from a single NGS analysis. NGS can revolutionize criminal investigations by providing a deeper understanding of DNA profiles and shedding light on intricate genetic relationships.

Forensic Genetic Genealogy

FGG: another groundbreaking technique that combines DNA profiling with genealogical research to identify potential suspects or victims. By comparing DNA profiles to public genealogy databases, investigators can trace familial relationships and generate leads to potential suspects in previously unsolved cases. This approach has yielded remarkable successes by unveiling the identities of perpetrators and bringing closure to long-standing cold, and even current, cases. However, the use of FGG in law enforcement raises ethical considerations and privacy concerns. Striking a balance between utilizing this valuable investigative resource and safeguarding individual privacy remains an ongoing challenge as forensic DNA analysis continues to evolve.

Ethical Considerations and Privacy Concerns

As forensic DNA analysis advances, addressing these developments’ ethical and privacy implications is crucial. While the increased sensitivity and accessibility of DNA profiling have undeniably helped solve crimes, concerns have been raised regarding the potential misuse of genetic information. Striking a balance between public safety and individual privacy is of utmost importance.

The potential for genetic discrimination based on one’s DNA profile raises significant ethical questions. Safeguarding the confidentiality and secure storage of DNA data is paramount to prevent unauthorized access and protect the rights of individuals. As the future of forensic DNA analysis progresses, legislators, law enforcement agencies, and the scientific community need to collaborate to establish robust guidelines and frameworks that ensure ethical practices, uphold privacy rights, and maintain public trust in the criminal justice system.

Impact on Law Enforcement

The future of forensic DNA analysis holds immense potential to transform law enforcement practices. By implementing these advancements, authorities can significantly reduce backlogs on casework and enable justice to be served more swiftly. Law enforcement agencies are increasingly empowered to collect DNA evidence even for minor crimes, providing valuable investigative leads that might have been missed.

NGS and FGG have been pivotal in solving cold cases and identifying unidentified remains. These breakthroughs have provided closure to families and demonstrated the tremendous value of DNA profiling in the fight against crime. Remarkably, these cutting-edge techniques are now being deployed to solve historical cases and current, high-profile crimes. This development has the potential to bring justice relatively quickly, but it also raises ethical and legal considerations mentioned above that need to be addressed.

As the future of forensic DNA analysis unfolds, it is imperative that legal professionals and criminal investigators stay abreast of the latest advancements. Understanding the evolving landscape of DNA profiling will provide the knowledge to effectively navigate the legal intricacies surrounding this powerful investigative tool. By embracing these innovations and engaging in ongoing education, legal practitioners can harness the full potential of forensic DNA analysis to deliver justice.

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• Doctor of Philosophy in Genome Science and Technology (PhD)
• Graduate School
• Prospective Students
• Graduate Degree Programs

Go to programs search

The Genome Science and Technology graduate program is a trans-disciplinary program that combines genomic research with leading-edge technology development in genome sciences for students pursing an M.Sc. or Ph.D. This program is intended to accommodate the diverse background of students and the broad nature of genomic research in human, animal, plant, microbes, and viruses.

Program Objectives

• Generate a culture of innovation and discovery by exposing trainees at all levels to important and timely scientific problems being addressed using emerging technologies.
• Enable researchers to effectively work at the nexus of biology, engineering, and physical sciences by providing a unified training program including joint seminars, cross-disciplinary rotations, and hands-on training in new technology and methodology.
• Provide enriching professional development programs to assist the transition of trainees into both the academic and industrial workforces.
• Foster close interactions, collaborations, and intellectual exchange with other laboratories nationally and internationally.

Our goal is to be among the top 10 graduate programs in genome sciences & technology in North America.

For specific program requirements, please refer to the departmental program website

What makes the program unique?

The Ph.D. program in Genome Science and Technology (GSAT) incorporates an innovative rotation program that allows students to access multiple highly skilled research faculty during their graduate program. These rotation opportunities allow student to learn the latest advances in genomic sciences and high through-put technologies. Rotations also allow valuable relationships to form for future collaborative opportunities.

The GSAT program has collaborative associations with both the Centre for High Through-put Technology and the Michael Smith Laboratories. Faculty members associated with the program have diverse backgrounds in genomics and proteomics, bio-engineering, systems biology, chemical biology,device and instrumentation development, and engineering.

I chose UBC because it is a research-intensive institution that provides a stimulating academic environment where I can acquire and develop the skills necessary to achieve my career goals. I have always been attracted to the best global universities, and UBC being in the top 30 and in one of my favourite cities, Vancouver, really captured my interest.

Uche Joseph Ogbede

Quick Facts

Program enquiries, admission information & requirements, program instructions.

Students who are selected for the GSAT rotation scholarship will not need to secure a supervisor before they are enrolled in the program. All other students must secure a supervisor before they can be admitted into the program. As well, they must meet the minimum admission requirements set out by Graduate and Post-doctoral Studies at UBC.

1) Check Eligibility

Minimum academic requirements.

The Faculty of Graduate and Postdoctoral Studies establishes the minimum admission requirements common to all applicants, usually a minimum overall average in the B+ range (76% at UBC). The graduate program that you are applying to may have additional requirements. Please review the specific requirements for applicants with credentials from institutions in:

• Canada or the United States
• International countries other than the United States

Each program may set higher academic minimum requirements. Please review the program website carefully to understand the program requirements. Meeting the minimum requirements does not guarantee admission as it is a competitive process.

English Language Test

Applicants from a university outside Canada in which English is not the primary language of instruction must provide results of an English language proficiency examination as part of their application. Tests must have been taken within the last 24 months at the time of submission of your application.

Minimum requirements for the two most common English language proficiency tests to apply to this program are listed below:

TOEFL: Test of English as a Foreign Language - internet-based

Overall score requirement : 100

IELTS: International English Language Testing System

Overall score requirement : 7.0

Other Test Scores

Some programs require additional test scores such as the Graduate Record Examination (GRE) or the Graduate Management Test (GMAT). The requirements for this program are:

The GRE is not required.

Prior degree, course and other requirements

Prior degree requirements.

Applicants must have a Life-Sciences degree, with significant experience in a quantitative science OR a Computer Science/Math/Engineering/Physics degree with significant experience in Life Sciences. Although work experience may be taken into consideration if the degree is outside these areas.

Document Requirements

CV, Official transcripts, three letters of reference, Official English exam scores (if required)

2) Meet Deadlines

May 2025 intake, application open date, canadian applicants, international applicants, september 2025 intake, deadline explanations.

Deadline to submit online application. No changes can be made to the application after submission.

Deadline to upload scans of official transcripts through the applicant portal in support of a submitted application. Information for accessing the applicant portal will be provided after submitting an online application for admission.

Deadline for the referees identified in the application for admission to submit references. See Letters of Reference for more information.

3) Prepare Application

Transcripts.

All applicants have to submit transcripts from all past post-secondary study. Document submission requirements depend on whether your institution of study is within Canada or outside of Canada.

Letters of Reference

A minimum of three references are required for application to graduate programs at UBC. References should be requested from individuals who are prepared to provide a report on your academic ability and qualifications.

Statement of Interest

Many programs require a statement of interest , sometimes called a "statement of intent", "description of research interests" or something similar.

• Supervision

Students in research-based programs usually require a faculty member to function as their thesis supervisor. Please follow the instructions provided by each program whether applicants should contact faculty members.

Instructions regarding thesis supervisor contact for Doctor of Philosophy in Genome Science and Technology (PhD)

Citizenship verification.

Permanent Residents of Canada must provide a clear photocopy of both sides of the Permanent Resident card.

4) Apply Online

All applicants must complete an online application form and pay the application fee to be considered for admission to UBC.

Research Information

Research focus.

Systems biology, Genomics and proteomics, Chemical biology, Bioengineering, Device and instrumentation development, Computational biology

Program Components

Students who have been selected for the GSAT rotation scholarship will have the opportunity to rotate through three GSAT-Faculty laboratories before they make the final decision on their thesis supervisor.

Research Facilities

GSAT faculty are spread throughout the UBC campus, with most occupying the Michael Smith Laboratories building. A small number of GSAT faculty may reside off-campus at the BC Cancer Research Centre or hospital research labs and Institutions.

Tuition & Financial Support

Financial Support

Applicants to UBC have access to a variety of funding options, including merit-based (i.e. based on your academic performance) and need-based (i.e. based on your financial situation) opportunities.

Program Funding Packages

All students accepted by a faculty member and enrolled in the program will be paid a minimum stipend of $24,300/year.  Students who have been selected for the GSAT rotation scholarships will also have their tuition paid for the first two years of study.

Average Funding

• 8 students received Teaching Assistantships. Average TA funding based on 8 students was $10,737.
• 22 students received Research Assistantships. Average RA funding based on 22 students was $19,516.
• 2 students received Academic Assistantships. Average AA funding based on 2 students was $2,135.
• 25 students received internal awards. Average internal award funding based on 25 students was $12,019.
• 3 students received external awards. Average external award funding based on 3 students was $25,556.

Scholarships & awards (merit-based funding)

All applicants are encouraged to review the awards listing to identify potential opportunities to fund their graduate education. The database lists merit-based scholarships and awards and allows for filtering by various criteria, such as domestic vs. international or degree level.

Graduate Research Assistantships (GRA)

Many professors are able to provide Research Assistantships (GRA) from their research grants to support full-time graduate students studying under their supervision. The duties constitute part of the student's graduate degree requirements. A Graduate Research Assistantship is considered a form of fellowship for a period of graduate study and is therefore not covered by a collective agreement. Stipends vary widely, and are dependent on the field of study and the type of research grant from which the assistantship is being funded.

Graduate Teaching Assistantships (GTA)

Graduate programs may have Teaching Assistantships available for registered full-time graduate students. Full teaching assistantships involve 12 hours work per week in preparation, lecturing, or laboratory instruction although many graduate programs offer partial TA appointments at less than 12 hours per week. Teaching assistantship rates are set by collective bargaining between the University and the Teaching Assistants' Union .

Graduate Academic Assistantships (GAA)

Academic Assistantships are employment opportunities to perform work that is relevant to the university or to an individual faculty member, but not to support the student’s graduate research and thesis. Wages are considered regular earnings and when paid monthly, include vacation pay.

Financial aid (need-based funding)

Canadian and US applicants may qualify for governmental loans to finance their studies. Please review eligibility and types of loans .

All students may be able to access private sector or bank loans.

Foreign government scholarships

Many foreign governments provide support to their citizens in pursuing education abroad. International applicants should check the various governmental resources in their home country, such as the Department of Education, for available scholarships.

Working while studying

The possibility to pursue work to supplement income may depend on the demands the program has on students. It should be carefully weighed if work leads to prolonged program durations or whether work placements can be meaningfully embedded into a program.

International students enrolled as full-time students with a valid study permit can work on campus for unlimited hours and work off-campus for no more than 20 hours a week.

A good starting point to explore student jobs is the UBC Work Learn program or a Co-Op placement .

Tax credits and RRSP withdrawals

Students with taxable income in Canada may be able to claim federal or provincial tax credits.

Canadian residents with RRSP accounts may be able to use the Lifelong Learning Plan (LLP) which allows students to withdraw amounts from their registered retirement savings plan (RRSPs) to finance full-time training or education for themselves or their partner.

Please review Filing taxes in Canada on the student services website for more information.

Cost Estimator

Applicants have access to the cost estimator to develop a financial plan that takes into account various income sources and expenses.

Career Outcomes

Career options.

Graduates find career opportunities in both the private and public sector involving genomic and proteomic technology development. Employers from biotechnology companies, government institutions and academia all seek graduates from the GSAT program. 

Enrolment, Duration & Other Stats

These statistics show data for the Doctor of Philosophy in Genome Science and Technology (PhD). Data are separated for each degree program combination. You may view data for other degree options in the respective program profile.

ENROLMENT DATA

Completion Rates & Times

Upcoming doctoral exams, friday, 20 september 2024 - 1:00pm - 226, michael smith laboratories, 2185 east mall.

• Research Supervisors

Advice and insights from UBC Faculty on reaching out to supervisors

These videos contain some general advice from faculty across UBC on finding and reaching out to a supervisor. They are not program specific.

This list shows faculty members with full supervisory privileges who are affiliated with this program. It is not a comprehensive list of all potential supervisors as faculty from other programs or faculty members without full supervisory privileges can request approvals to supervise graduate students in this program.

• Adams, Keith (Molecular evolution, genome evolution, and gene expression)
• Andersen, Raymond (Chemicals produced by marine organisms)
• Aparicio, Samuel (Breast cancer, genome sequencing )
• Birol, Inanc (bioinformatics, computational biology, genomics, transcriptome analysis, next generation sequencing, cancer, Bioinformatics, sequence assembly, transcriptomics, gene regulation networks, high throughput informatics for big data)
• Blakney, Anna (Biomedical materials; Medical molecular engineering of nucleic acids and proteins; Gene and molecular therapy; Gene delivery; RNA; Biomaterials; Immunoengineering)
• Bohlmann, Joerg (plant biochemistry, forestry genomics, forest health, conifers, poplar, bark beetle, mountain pine beetle, natural products, secondary metabolites, terpenes, floral scent, grapevine, Conifer genomics Forest health genomics Mountain pine beetle, fungus, pine interactions and genomics Chemical ecology of conifer, insect interactions)
• Bouchard-Cote, Alexandre (machine/statistical learning; mathematical side of the subject as well as in applications in linguistics and biology)
• Brooks-Wilson, Angela (Bioinformatics; Clinical oncology; Genetic medicine; Genomics; cancer families; cancer genetics; genetic susceptibility; human genetics; longevity; Super seniors)
• Brown, Carolyn Janet (Bioinformatics; Clinical oncology; Genetic medicine; Genomics; Health counselling; Applied Genetics; Chromosomes: Structure / Organization; DNA methylation; Epigenetic control of gene expression; Gene Regulation and Expression; Genes escaping X-chromosome inactivation; Long non-coding RNAs; X-chromosome inactivation; XIST RNA)
• Brumer, Harry (Biochemistry; Chemical sciences; Genomics; Biological and Biochemical Mechanisms; biomass; carbohydrates; cellulose; Chemical Synthesis and Catalysis; Enzymes; microbiota; plant cell walls; polysaccharides)
• Carleton, Bruce (Pediatrics, clinical pharmacology, outcomes research, drug policy evaluation, health services research, drug safety and adverse drug reactions)
• Chi, Kim Nguyen (Thrombosis in cancer patients, methemoglobinemia, hemolysis, anticancer drugs, prostate cancer, chemotherapy, cell cancer, breast cancer)
• Collins, Colin (translational genomics where mathematics, genomics, computer science, and clinical science converge in diagnostics and therapeutics)
• Conibear, Elizabeth (Other basic medicine and life sciences; Protein trafficking in cell biology; Molecular genetics; Functional genomics; Membranes; Enzymes and Proteins; Vesicle Trafficking; Molecular Genetics; Neurodegenerative diseases; Protein Palmitoylation; Cell Signaling and Cancer)
• Cote, Helene (HIV Infection, blood research, infectious diseases)
• Dao Duc, Khanh (Genomics; Mathematical biology; Neurocognitive patterns and neural networks; Agricultural spatial analysis and modelling; combine mathematical,computational and statistical tools to study fundamental biological processes; regulation and determinants of gene expression and translation; Machine Learning for Biological Imaging and Microscopy; Database development and management; Biological and Artificial Neural Networks for geometric representation)
• de Boer, Carl (Gene regulation)
• Dennis, Jessica (Bioinformatics; Genetic medicine; Administrative health data; Complex Trait Genetics; Electronic health records; Epidemiology; genetic epidemiology; Genetics of Neurological and Psychiatric Diseases; Machine Learning; Mental Health and Psychopathology in Children and Youth; Precision Health; statistical genetics)
• Eltis, Lindsay (Biochemistry; Genomics; Immunology; Microbiology; Bacterial catabolism of steroids and lignin; biocatalyst development; Enzymes and Proteins; Metabolism (Living Organisms); Mycobacterium tuberculosis)
• Finlay, B Brett (Infectious agents, bacteria, microbial infections and how humans react to it)
• Foster, Leonard (Biochemistry; Genomics; Agriculture; antigen presentation; Bioinformatics; Biological and Biochemical Mechanisms; Biotechnology; Cell Signaling and Infectious and Immune Diseases; Honey bees; host-pathogen interactions; Immune System; Microbiology; Proteomics; Systems Biology)
• Friedman, Jan Marshall (Other clinical medicine; Genetic medicine; Genomics; Health counselling; Application of whole genome sequencing to diagnose genetic disease; Birth defects epidemiology; Clinical genomics; Developmental Genetics; Genetics and Heredity; Neurofibromatosis)
• Gsponer, Joerg (Protein-DNA, protein-RNA and protein-protein interactions)
• Hallam, Steven (Microbiome; Microbial ecology; metagenomics; Biological engineering; Synthetic biology; Bioinformatics; Machine Learning; Entrepreneurship)
• Hancock, Robert E (Medical, health and life sciences; cationic peptides as anti-biofilm agents; systems immunology)

Doctoral Citations

Sample Thesis Submissions

• Novel tools and methods supporting high-throughput screening and metabolic engineering in model and non-model microbial host chassis
• Investigating evolutionary conservation and population specificity of DNA methylation
• Mapping in silico genetic networks of tumour suppressor genes to uncover novel gene functions and predict cancer cell vulnerabilities
• Circulating tumour DNA as a comprehensive multi-omic tool for profiling advanced prostate cancer
• Genomic characterization of urologic malignancies and the relevance of clonal hematopoiesis in liquid biopsies
• Bioprocess and cell line engineering to improve pancreatic endocrine differentiation outcomes and increase safety of pluripotent stem cells
• Identification and characterization of DNA repair deficiencies with circulating tumor DNA in prostate cancer
• Unravelling RecQ helicase function in genome stability using Strand-seq
• Genomic and clinical features of metastatic prostate cancer
• Genomics of western redcedar (Thuja plicata)
• Understanding cellular response to drugs and toxins with yeast genomics tools

Related Programs

Same specialization.

• Master of Science in Genome Science and Technology (MSc)

Further Information

Specialization.

Genome Science and Technology combines training in genomics, with intensive training in new leading-edge genome science technologies, such as high-throughput techniques that acquire information from DNA sequence (genomics), protein expression and interactions (proteomics), and gene expression patterns (transcriptomics) to exploit information for a better understanding of biology.

Research Areas

• systems biology
• genomics and proteomics
• chemical biology
• bioengineering
• device and instrumentation development
• computational biology

UBC Calendar

Program website, faculty overview, academic unit, program identifier, classification, supervisor search.

Departments/Programs may update graduate degree program details through the Faculty & Staff portal. To update contact details for application inquiries, please use this form .

Jackson Moore

UBC is a world-class university and a leader in genomics research. Having done my undergraduate here as well, I developed a love for the city and the lifestyle it offers.

Icíar Fernández Boyano

I have a passion for travelling and discovering new places, I had previously visited Canada several times before and knew that it was a place where I could see myself living. I enjoy big cities and Vancouver seemed to have the perfect mix of city living, with mountains and the ocean a short drive...

Cameron Herberts

The clinical research network in Vancouver makes it one of the world’s leading sites for translational genomics research. There is a provincial population of ~4 million, all served by a single health care system, offering unique opportunities for correlative genomics research at the population...

Evan Warner

I believe that when deciding where to undertake a PhD, the choice of graduate program and laboratory should be based largely on the supervisor with whom you would be working. The degree to which a great mentor can help you grow and thrive despite all the challenges of a PhD cannot be understated. I...

Curious about life in Vancouver?

Find out how Vancouver enhances your graduate student experience—from the beautiful mountains and city landscapes, to the arts and culture scene, we have it all. Study-life balance at its best!

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MS in Biomedical Forensic Sciences

Visit the BU Chobanian & Avedisian School of Medicine for more information. The Biomedical Forensic Sciences (BMFS) program trains aspiring and midcareer professionals in a variety of forensic disciplines applied to crime scene investigation and evidence analysis. Professionals trained in these disciplines are crucial to today’s comprehensive forensic investigations. Completing this degree will qualify graduates to work as forensic scientists, DNA analysts, chemists, death investigators, and crime scene responders at the local, state, and federal levels. The MS in Biomedical Forensic Sciences is a FEPAC-accredited graduate program. FEPAC (Forensic Science Education Programs Accreditation Committee) maintains and enhances the quality of forensic science education through a formal evaluation of college-level academic programs. The primary function of the committee is to develop and maintain standards and to administer an accreditation program that recognizes and distinguishes high-quality undergraduate and graduate forensic science programs.

Forensic Science Education at the Aram V. Chobanian & Edward Avedisian School of Medicine

All of our faculty remain actively involved in casework and commonly utilize their own experience to teach students about science and the application of science to the law.

The forensic curriculum and courses at the Chobanian & Avedisian School of Medicine  are specially developed for forensic science education. A significant number of courses are designed such that there is a laboratory or practical component included. This ensures that our students obtain a significant amount of hands-on experience not available through lecture classes alone. The master’s degree program is a 38-unit program that can be completed in two years.

The BMFS program is housed in the Chobanian & Avedisian School of Medicine , and the master’s degree awarded is an MS in Biomedical Forensic Sciences from the Chobanian & Avedisian School of Medicine . Therefore, our students primarily take courses and perform research in University facilities and laboratories.

Our criminal law classes (Criminal Law I and II) are taught by practicing attorneys. This allows our students to get a real sense of expert testimony while receiving advice and expertise from the attorneys who regularly practice direct and cross examination.

All students actively engage in independent research. Experience gained through this endeavor has allowed our students not only to present at conferences and publish in journals, but also to develop expertise in a field of study not accessible through courses alone.

These requirements, experiences, and in-depth laboratory practice are what allow us to offer high-quality, graduate-level, research-grade, forensic science education to MS students at Chobanian & Avedisian SOM .

Learning Outcomes

Students graduating with an MS in Biomedical Forensic Sciences are expected to:

• Demonstrate an in-depth understanding of the applications of biology and chemistry to the collection and analysis of forensic evidence.
• Demonstrate an in-depth knowledge of specific laboratory processes and procedures, acquired from the program-required laboratory courses in two chosen disciplines of interest, that includes a practical demonstration of competency in the technical procedures, data interpretation, and reporting of results.
• Show an in-depth understanding of the interface between science and law and their ethical obligations related to examination of evidence and role as an expert witness.
• Produce a written thesis that demonstrates the application of the scientific process through use of critical thinking applied to project experimental design and data analysis.
• Participate in a portfolio of professional development activities that include attendance at seminars, participation in regional and/or national forensic science meetings, or internship activities.

Program Requirements

Core curriculum.

• GMS FS 700 Criminal Law and Ethics (2 units)
• GMS FS 701 Crime Scene Investigation (3 units)
• GMS FS 702 Forensic Biology (3 units)
• GMS FS 703 Forensic Chemistry (3 units)
• GMS FS 707 Trace Evidence Analysis (3 units)
• GMS FS 720 Molecular Biology of Forensic DNA Analysis (3 units)
• GMS FS 800 Criminal Law II-Mock Court (2 units)
• GMS FS 830 Forensic Toxicology (3 units)
• GMS FS 870 Directed Research and Professionalism in Biomedical Forensic Sciences (2 units)
• GMS FS 970 Research in Biomedical Forensic Sciences (2 units)

Forensic Laboratory Courses

Each student is required to complete 4 units of laboratory coursework. The BMFS program offers the following laboratory courses throughout the year.

• GMS FS 704 Forensic Biology Laboratory (2 units)
• GMS FS 708 Forensic Instrumental Analysis Laboratory (2 units)
• GMS FS 721 Forensic DNA Analysis Laboratory (2 units)
• GMS FS 831 Forensic Toxicology Laboratory (2 units)
• GMS FS 706 Pattern Evidence Analysis (2 units)
• GMS FS 713 Bloodstain Pattern Analysis (2 units)
• GMS FS 715 Forensic Pathology and Medicolegal Death Investigation (2 units)
• GMS FS 730 Advanced Topics in DNA Analysis (2 units)
• GMS FS 735 Ignitable Liquids and Explosives (2 units)
• GMS FS 740 Analysis of Controlled Substances (2 units)
• GMS FS 803 Advanced Topics in Forensic Chemistry (2 units)
• GMS FS 840 Case Practicum in Forensic Biology-DNA (2 units)
• GMS FS 871 Internship in Biomedical Forensic Sciences (2 units)
• GMS FS 971 Publication and Communication of Research in Biomedical Forensic Sciences (2 units)

Transcript Designation

Students may choose to focus their elective courses and thesis research on one general scientific area (e.g., forensic biology/DNA, forensic chemistry/toxicology, or forensic medicine/death investigation). If a student completes a designated Specialty Track curriculum and passes a topic-specific competency exam, the achievement will appear on their transcript.

All BMFS students must pass a general competency exam to graduate. This achievement will appear on student transcripts.

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DNA Analysis

CAMPUS ADMISSIONS

• (734) 432-5339
• [email protected]

Develop skills in DNA Analysis

Unleash the power of DNA evidence! Madonna University's DNA Analysis Certificate program equips you with the in-demand skills to excel in forensic science. This intensive certificate program provides a solid foundation in DNA analysis techniques used in crime laboratories. 

Elevate Your Forensic Science Career 

This certificate program complements your bachelor's degree in criminal justice or forensic science, allowing you to deepen your expertise in a crucial and growing field. You'll gain valuable knowledge in: 

• Recovering DNA profiles  from crime scene evidence using advanced techniques. 
• Understanding the science behind DNA  and its role in forensic identification.
• Analyzing DNA data  and interpreting results for legal proceedings. 
• Thinking critically  to solve problems encountered during DNA analysis. 

Degrees Offered

• Certificate of Achievement - Plan of Study

Unlock Career Opportunities 

The ability to analyze DNA evidence is a sought-after skill in today's forensic science field. Earning Madonna University's DNA Analysis Certificate opens doors to exciting careers in various settings, including: 

• Crime Laboratories:  Become a vital member of a crime lab team, assisting in processing evidence, analyzing DNA samples, and preparing reports for legal proceedings. 
• Law Enforcement Agencies:  Support law enforcement investigations by providing expert analysis of DNA evidence from crime scenes. 
• Medical Examiner/ Coroner's Offices:  Aid in the identification of deceased individuals and contribute to solving suspicious death cases through DNA analysis. 
• Private Forensic Laboratories:  Offer your expertise to defense or prosecution teams in legal cases requiring DNA analysis. 
• Research Laboratories:  Contribute to the advancement of forensic science by participating in research on new DNA analysis techniques and technologies. 

This certificate program equips you with the foundational knowledge and practical skills to pursue a rewarding career path in the ever-evolving field of forensic science. While some of these careers may require a bachelor's degree or further education, this certificate provides a strong addition to your existing education path. To discuss specific career opportunities and potential next steps, we encourage you to speak with your program director or success coach. 

Gain In-Demand Skills in DNA Analysis

Become a competitive candidate in the forensics field with a DNA Analysis Certificate from Madonna University. 

OTHER PROGRAMS IN FORENSIC SCIENCE

Crime laboratory technician certificate.

Learn to analyze physical evidence to determine significance to criminal investigations.

Crime Scene Practice Certificate

Gain additional knowledge in crime scene practice through Madonna’s Criminal Justice program.

Faculty Bios

Jessica Zarate Assistant Professor, Forensic Science

M.S. National University

B.S. Madonna University

B.H.S. Ferris State University

[email protected]

734-432-5523

Jessica Zarate

Ms. Jessica Zarate, MS is currently an assistant professor in the FEPAC accredited undergraduate Forensic Science Program at Madonna University teaching forensic science coursework including impression and pattern evidence. She was a Michigan certified police officer for eight years and is the inventor of the Zar-Pro™ Fluorescent Blood Lifters (US Patent 8,025,852 B2).

She has worked in impression analysis, for over 9 years, including during her time as a Police Officer with the Northville City Police Department when she collaborated with Michigan State Police Northville Forensic Science Laboratory, Latent Print Unit with research and development in the area of impression enhancement.

Her research work is focused within the impression evidence discipline, publishing on a fluorogenic method for lifting, enhancing, and preserving bloody impression evidence, recovering bloody impressions from difficult substrates, including from human skin, and defining methods to create consistent and reproducible fingerprint impressions deposited in biological fluids on a variety of substrates.

Stephanie Gladyck Assistant Professor, Forensic Science

Ph.D. Wayne State University

M.S. Syracuse University

[email protected]

734-432-5521

Franciscan Center S217-Q

Stephanie Gladyck

Dr. Stephanie Gladyck is an alumna of the Forensic Science Program at Madonna University (Class of 2013), has a MS in Forensic Science with a concentration in Forensic Biology from Syracuse University (2015), and received her PhD in Molecular Genetics and Genomics from Wayne State University’s School of Medicine (2021).

Dr. Gladyck is a mitochondrial biochemist, with experience in ancient DNA analysis, forensic anthropology, molecular biology, and genetics. You can find her teaching various forensic science, chemistry, and biology courses in The Fran. She is very excited to be back at Madonna University as a faculty member!

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Biomedical Sciences Graduate Program Receives Approval for New PhD Program in Computational Biology

July 11, 2024 by [email protected]   |   Leave a Comment

Computational biology is an interdisciplinary field that centers on the development and application of computational methods to analyze large collections of biological data, such as genetic sequences, cell populations or protein samples, to make new predictions or discover new biology. The computational approaches used include analytical methods, mathematical modeling and simulation. The shift toward more quantitative approaches to biological research and experimentation is driving demand for expert computational biologists who can manage, analyze and interpret large sets of biological data. Our new degree program will address this need by training computational biologists who are prepared to develop and apply sophisticated computational approaches to key biological and biomedical questions in academia and industry. The proposed PhD program will equip students with the knowledge and skills to conduct advanced analysis of large data sets. Students will also gain an in-depth understanding of the biology behind the data they are analyzing and will learn to apply computational approaches such as algorithms and statistical models that are commonly used across biological fields. Importantly, the students will learn and apply the principles of open science – transparency, scientific reproducibility, data sharing and collaborative research. Graduates will be able to identify areas for future research and contribute to research teams to drive discovery and innovation in the biological sciences in both the public and private sector.

Now that the official SCHEV approval letter is safely in hand, Dr. Sheffield is preparing to assume his role as the inaugural Director of Graduate Studies for the UVA SOM Computational Biology PhD program. He will work with many others who will be involved in the work of bringing the program to life. This will require continuing to build new coursework, recruiting faculty mentors for trainees and, of course, marketing the opportunity to the next generation of students seeking a PhD in Computational Biology!

Many thanks go to all of the individuals who helped with this effort at any point throughout the very long process of shepherding this proposal through the approval process – it took a village!

Link to full article.

Tags: Computational Biology , CPHG , Nathan Sheffield

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Usc researchers develop ai model that predicts the accuracy of protein–dna binding.

Contact: Will Kwong, [email protected] ; USC Media Relations, [email protected] or (213) 740-2215

A new artificial intelligence model developed by USC researchers and published in Nature Methods can predict how different proteins may bind to DNA with accuracy across different types of protein, a technological advance that promises to reduce the time required to develop new drugs and other medical treatments.

The tool, called Deep Predictor of Binding Specificity (DeepPBS), is a geometric deep learning model designed to predict protein–DNA binding specificity from protein–DNA complex structures. DeepPBS allows scientists and researchers to input the data structure of a protein–DNA complex into an online computational tool .

“Structures of protein–DNA complexes contain proteins that are usually bound to a single DNA sequence. For understanding gene regulation, it is important to have access to the binding specificity of a protein to any DNA sequence or region of the genome,” said Remo Rohs, professor and founding chair in the department of Quantitative and Computational Biology at the USC Dornsife College of Letters, Arts and Sciences. “DeepPBS is an AI tool that replaces the need for high-throughput sequencing or structural biology experiments to reveal protein–DNA binding specificity.”

AI analyzes, predicts protein – DNA structures

DeepPBS employs a geometric deep learning model, a type of machine-learning approach that analyzes data using geometric structures. The AI tool was designed to capture the chemical properties and geometric contexts of protein–DNA to predict binding specificity.

Using this data, DeepPBS produces spatial graphs that illustrate protein structure and the relationship between protein and DNA representations. DeepPBS can also predict binding specificity across various protein families, unlike many existing methods that are limited to one family of proteins.

“It is important for researchers to have a method available that works universally for all proteins and is not restricted to a well-studied protein family. This approach allows us also to design new proteins,” Rohs said.

Major advance in protein-structure prediction

The field of protein-structure prediction has advanced rapidly since the advent of DeepMind’s AlphaFold, which can predict protein structure from sequence. These tools have led to an increase in structural data available to scientists and researchers for analysis. DeepPBS works in conjunction with structure prediction methods for predicting specificity for proteins without available experimental structures.

Rohs said the applications of DeepPBS are numerous. This new research method may lead to accelerating the design of new drugs and treatments for specific mutations in cancer cells, as well as lead to new discoveries in synthetic biology and applications in RNA research.

About the study: In addition to Rohs, other study authors include Raktim Mitra of USC; Jinsen Li of USC; Jared Sagendorf of University of California, San Francisco; Yibei Jiang of USC; Ari Cohen of USC; and Tsu-Pei Chiu of USC; as well as Cameron Glasscock of the University of Washington.

This research was primarily supported by NIH grant R35GM130376.

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One pot RNA:DNA assembly for ribosomal RNA detection of pathogenic bacteria with single-molecule sensitivity

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Effective treatment of infectious diseases hinges on timely and accurate diagnosis. Current methods face challenges in distinguishing between pathogens that cause a similar symptom and where appropriate treatment may be hindered by antimicrobial resistance (AMR). Here, we introduce a PCR-free system that identifies and quantifies ribosomal RNA transcripts (rRNA) in pathogenic bacteria instead of DNA-encoding rRNA genes. Our method leverages the potential of >1 million rRNAs found in replicating bacterial cells in comparison to the limited number of rRNA DNA copies per cell. We combined nanopores with RNA nanotechnology to identify rRNA from bacteria and other cells. We developed a simultaneous protocol for rRNA isolation, assembly and enrichment with assembled RNA identifiers (IDs), which prevents heat degradation and eliminates background RNA. Our method detects multiple bacterial species, including AMR variants of Salmonella enterica and Acinetobacter baumannii, and coinfection. This approach offers unmatched specificity, with the ability to identify a single bacterium without amplification. The integration of CRISPR-dCas9 binding to RNA IDs leads to serovar-specific identification and opens new avenues in identifying pathogens up to their variants using abundant rRNAs.

Competing Interest Statement

F.B. and U.F.K. are inventors of two patents related to RNA analysis with nanopores (UK patent application no. 2113935.7, in process; UK Patent application nos. 2112088.6 and PCT/GB2022/052171, in process) submitted by Cambridge Enterprise on the behalf of the University of Cambridge. S.E.S. is partially funded by Oxford Nanopore Technologies for her PhD. U.F.K. is a co-founder of Cambridge Nucleomics. All other authors have no competing interests.

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Watch CBS News

DNA testing led to a new suspect in a Montana girl's 1996 murder. He was found dead hours after being questioned.

By Stephen Smith

Updated on: August 12, 2024 / 3:25 PM EDT / CBS News

Nearly three decades after 15-year-old Danielle "Danni" Houchins was found dead near a fishing access site in Montana, authorities say DNA has finally led them to her killer — a married father of two who died by suicide just hours after he was interviewed by investigators about the cold case.

The Gallatin County Sheriff's Office said Thursday that advanced DNA testing and forensic genetic genealogy recently led authorities to identify Houchins' killer as 55-year-old Paul Hutchinson.

On Sept. 21, 1996 at about 11 a.m., Houchins left her home in Belgrade, Montana and when she never returned, her family called the police. Her mother found Houchins' truck at a popular fishing access site on the Gallatin River, and later that night, Houchins' body was found face down in shallow water, the sheriff's office said.

DNA evidence was collected at the scene and numerous suspects were interviewed over the years, but no arrests were made and the case went cold.

Finally, authorities renewed efforts to solve the case, and in 2021, when Dan Springer became Gallatin County's sheriff, he brought in two outside experts from California to assist — private investigator Tom Elfmont, a retired Los Angeles Police Department officer, and Sergeant Court Depweg, who specializes in using DNA technology to solve homicides.

Four hairs that were collected from Houchins' body at the crime scene were used to create a partial DNA profile, the sheriff's office said. That profile was ultimately sent to a lab in Virginia, where genealogists used DNA databases to identify Hutchinson as a possible suspect.

On July 23, 2024, Elfmont and Depweg interviewed Hutchinson, who lived about 100 miles away from the crime, in Dillon, Montana.

"During the nearly two-hour interview, Hutchinson, who had lived in Bozeman at the time of Houchins' death, displayed extreme nervousness," the sheriff's office said. "Investigators noted he sweated profusely, scratched his face, and chewed on his hand. When shown a photo of Houchins, Hutchinson slumped in his chair and exhibited signs of being uncomfortable. Upon release, his behavior was observed to be erratic. "

Early the next morning, officials say, Hutchinson called the Beaverhead County Sheriff's Office, saying he needed assistance before hanging up. He was found on the side of the road, dead from a self-inflicted gunshot wound, the sheriff's office said.

Investigators have determined that Houchins and Hutchinson didn't know each other, describing the murder as a "crime of opportunity." They believed Hutchinson, who at the time was a student at Montana State University, randomly encountered Houchins before raping her and suffocating her in shallow water.

Authorities say Hutchinson graduated with a degree in fisheries wildlife biology and then worked for the Montana Bureau of Land Management for 22 years. He had no criminal history and was married with two adult children.

"This case exemplifies our relentless pursuit of justice. We never gave up on finding the truth for Danni and her family, exhausting all means necessary to bring closure to this heartbreaking chapter,"  Springer said . "The investigation remained open because we knew Danni was murdered and someday, we were going to have the tools available to solve this case."

Houchins' younger sister, Stephanie Mollet, spoke alongside the sheriff at a news conference Thursday.

"Even though this man will not face a jury of his peers, I have no doubt he was the one who forcefully and violently sexually assaulted my sister, then held her head down in a marsh until she choked to death on mud," said Mollet. "When the time came to face up and account for his violence, he instead chose to end his life. He knew of his guilt and couldn't face my family or his family and the pain he caused."

The announcement by officials in Montana comes just days after a cold case murder in Hawaii was finally cracked with DNA testing. That suspect also died by suicide before he could be arrested.

Stephen Smith is a managing editor for CBSNews.com based in New York. A Washington, D.C. native, Steve was previously an editorial producer for the Washington Post, and has also worked in Los Angeles, Boston and Tokyo.

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Biostatistics Graduate Program

Siwei zhang is first author of jamia paper.

Posted by duthip1 on Tuesday, August 13, 2024 in News .

Congratulations to PhD candidate Siwei Zhang , alumnus Nicholas Strayer (PhD 2020; now at Posit), senior biostatistician Yajing Li , and assistant professor Yaomin Xu on the publication of “ PheMIME: an interactive web app and knowledge base for phenome-wide, multi-institutional multimorbidity analysis ” in the  Journal of the American Medical Informatics Association on August 10. As stated in the abstract, “PheMIME provides an extensive multimorbidity knowledge base that consolidates data from three EHR systems, and it is a novel interactive tool designed to analyze and visualize multimorbidities across multiple EHR datasets. It stands out as the first of its kind to offer extensive multimorbidity knowledge integration with substantial support for efficient online analysis and interactive visualization.” Collaborators on the paper include members of Vanderbilt’s Division of Genetic Medicine, Department of Biomedical Informatics, Department of Urology, Department of Obstetrics and Gynecology, Division of Hematology and Oncology, VICTR , Department of Pharmacology, Center for Drug Safety and Immunology, and Department of Psychiatry and Behavioral Sciences, as well as colleagues at Massachusetts General Hospital, North Carolina State University, Murdoch University (Australia), and the Broad Institute. Dr. Xu is corresponding author.

Tags: cloud computing , EHR , methods , network analysis , R , schizophrenia , Shiny

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