Nancy J. Cox

Dr. Nancy Cox is a quantitative human geneticist and the Mary Phillips Edmonds Gray Professor of Genetics at Vanderbilt University Medical Center. Dr. Cox’s research interests focus on large-scale integration of genomics with methods for the analysis of genome data on translational phenotypes and common diseases, such as Alzheimer’s disease. Dr. Cox is a member of the Internal Advisory Committee and an investigator in the Vanderbilt Alzheimer’s Disease Research Center.

Dr. Cox completed her doctoral degree in human genetics at Yale University, a postdoctoral fellowship in psychiatric genetics at Washington University, and a postdoctoral fellowship in the genetics of diabetes at University of Pennsylvania. Dr. Cox joined the Vanderbilt faculty in 2015.

Dr. Kyle Farh

Dr. Kyle Farh is Vice President at Illumina’s Artificial Intelligence (AI) Lab for Genome Interpretation, where he deciphers the clinical impact of genetic variants in rare and common diseases. Towards this goal, Kyle leads a multidisciplinary research team of deep learning scientists, statistical geneticists, and molecular biologists. Prior to joining Illumina, Kyle was an attending physician at Boston Children’s Hospital. Kyle completed his postdoc fellowship in Medical and Population Genetics at the Broad Institute, and received his PhD in Molecular Biology at MIT, MD at Harvard Medical School, and BS in Computer Science from Rice University.

Melissa Haendel

Melissa Haendel is the Chief Research Informatics Officer (CRIO) for the University of Colorado Anschutz Medical Campus. She is responsible for transforming the campus use of information and information systems to accelerate biomedical discoveries, streamline health system operations, and continuously improve patient care. Haendel also holds an appointment as a professor of biochemistry and molecular genetics at the CU School of Medicine. She joined CU from the Oregon Health & Science University, where she led the Translational and Integrative Sciences Laboratory and is a professor of medical informatics and clinical epidemiology.

Eimear Kenny

Eimear Kenny, PhD, is the Founding Director of the Institute for Genomic Health, building resources for integrating genomic information and AI in routine clinical care, and supporting the sequencing and return of results to a diverse patients in the Mount Sinai Health System. She also the Founding Director of the Center for Translational Genomics and a Professor of Medicine and Genetics, at the Icahn School of Medicine at Mount Sinai, working on computational and translational genomic research.She is Principal Investigator in many large NIH-funded international consortium focused on computational genomics and genomic medicine, including eMERGE, PRIMED, CSER, GSP, TOPMed, PAGE, and HPRC. Continue reading

Luisa Mestroni

My research is dedicated to the study of genetics of heart muscle diseases, called cardiomyopathies. Since 1991, we have collected clinical information and DNA of over 2000 subjects from families with cardiomyopathies, initially in Italy and subsequently in the USA. Data and materials are collected in the International Familial Registry which has been supported by various grants of the NIH, AHA, UN, MDA. Through our researches on the molecular genetics of cardiomyopathies and analysis on genotype-phenotype correlations, several genes and pathways causing heart disease have been investigated in my laboratory, from cytoskeletal and sarcomeric genes, to ion channels. We are interested in the genes causing dilated cardiomyopathy, arrhythmogenic right ventricular dysplasia, left ventricular noncompaction and hypertrophic cardiomyopathy. Continue reading

Josh Peterson

Josh Peterson, MD, MPH serves as a Professor of Biomedical Informatics and Medicine in the School of Medicine at Vanderbilt University Medical Center, the Director of the Center for Precision Medicine, and the Vice-President for Personalized Medicine.

Dr. Peterson is an internationally recognized researcher and educator in Biomedical Informatics and maintains an Internal Medicine practice at VUMC.  He has authored more than 120 peer-reviewed publications, abstracts, reviews, and book chapters.  Dr. Peterson’s research interests are in precision medicine with a focus on clinical decision support to improve drug safety and efficacy, and the translation of genomic technologies to routine clinical care.

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Jennifer Posey

As a physician-scientist and a medical and human geneticist, my ultimate goal is to be able to translate our understanding of the relationship between an individual’s genotype and phenotype into actionable and treatable information in the clinic. The first step toward this goal is the elucidation of the complex relationships between genotypes and human disease phenotypes.

Aaron Quinlan

Aaron Quinlan is an Endowed Professor of Human Genetics and Biomedical Informatics at the University of Utah. His laboratory has developed numerous foundational, open-source software tools that facilitate discovery in genomics for thousands of researchers worldwide. His research program explores the causes and consequences of germline and somatic mutations on development, fertility, and health. By applying computational advances to massive genomic datasets, his laboratory has charted maps of genetic constraint in genes, observed surprising variability in the rate at which germline mutations arise and accumulate in sperm, and has unveiled potential connections between germline mutations and health. More information can be found at www.quinlanlab.org.

Angela Brooks

As a splicing specialist, Angela Brooks’s goal is to identify weaknesses in the cancer genome. A Pew Scholar, Brooks is an expert in the analysis of RNA sequencing data and is especially interested in the role of RNA splicing in gene expression. Brooks co-led a research group in the Pan-cancer Analysis of Whole Genomes (Pan-cancer Analysis of Whole Genomes (PCAWG) project, which contributed to the analysis of more than 2,600 genomes of 38 different tumor types, creating a huge resource of primary cancer genomes. Brooks’s Pan-Cancer research focused on changes in gene expression revealed by sequencing the RNA molecules in cancer cells in addition to the DNA sequences that are the focus of most cancer genomics studies. Toward improved detection of RNA molecules in cancer, Brooks’s lab developed the tool FLAIR for transcript detection and quantification from long-read RNA sequencing data. She also co-led the international Long-read RNA-seq Genome Annotation Assessment Project (LRGASP) Consortium to perform a systematic evaluation of long-read RNA sequencing methods.

When The Scientist magazine named her “A Scientist to Watch” in 2017, Brooks emphasized that beyond her lab work, she is also passionate about promoting diversity in research. “I think that’s another big goal I have: To increase the diversity of the data we have, but also to help include scientists from diverse populations to study these genomes.”

Brooks has enhanced diversity and inclusion in STEM at UC Santa Cruz by creating new training opportunities for students from underrepresented groups and leading and mentoring a highly diverse team of graduate and undergraduate student researchers. She is currently PI for the UCSC Genomics Institute’s Research Mentoring Internship Program (RMI), which supports research experiences for undergraduates from groups that are underrepresented in STEM. She has received multiple awards in recognition of her diversity and inclusion efforts including the Chancellor’s Achievement Awards for Diversity and the Outstanding Research and Professional Mentor Award from the Society for Advancement of Chicanos/Hispanics & Native Americans in Science (SACNAS).

Anshul Kundaje

Anshul Kundaje is Associate Professor of Genetics and Computer Science at Stanford University. The Kundaje lab develops statistical and machine learning methods for large-scale integrative analysis of functional genomic data to decode regulatory DNA and networks across diverse cell types and tissues and understand their role in cellular function and disease. Anshul completed his Ph.D. in Computer Science in 2008 from Columbia University. As a postdoc at Stanford University from 2008-2012 and a research scientist at MIT and the Broad Institute from 2012-2014, he led the integrative analysis efforts for two of the largest functional genomics consortia – The Encyclopedia of DNA Elements (ENCODE) and The Roadmap Epigenomics Project. Dr. Kundaje is a recipient of the 2019 Chen Award of Excellence from the Human Genome Organization, 2016 NIH Director’s New Innovator Award and The 2014 Alfred Sloan Foundation Fellowship. Anshul has also served as a member of the NIH Director’s Advisory Committee for Artificial Intelligence in Biomedical Research and the NHGRI Genomic Data Science Working Group.