Scientific Advisory Board

The Scientific Advisory Board is made up of leaders in the fields of medical genetics, genomics and bioinformatics. The board will advise and assist in scientific research and product development initiatives focused on clinical applications.

Sherri Bale

Sherri Bale, Ph.D., FACMG

Managing Director and Co-founder, GeneDX; Senior Vice President, BioReference Laboratories; Founding Member of the American College of Medical Genetics

Sherri Bale received her BA in Biology from Clark University, her M.S. and Ph.D. degrees from the University of Pittsburgh, and her post-doctoral training in medical genetics at the National Institutes of Health, Bethesda, MD. She is an ABMG Board-Certified Ph.D.- Medical Geneticist and Founding Member of the American College of Medical Genetics, served on the ACMG Professional Practice and Guidelines Committee, the ACMG Foundation Committee, the Corporate Responsibility Task Force, co-chaired the Whole Exome//Genome Sequencing Task Force, and works with the Laboratory Practice Committee. She is a consultant to various academic, federal, and private organizations regarding clinical, technical, and regulatory issues in genetics and genetic testing. She co-founded GeneDx in 2000 after 16 years at the National Institutes of Health. GeneDx was acquired by BioReference Laboratories, Inc. in 2006. Dr. Bale served as President and Clinical Director of GeneDx until 2011, and then became Managing Director of GeneDx and Sr. Vice President of BioReference Laboratories. The company specializes in developing and providing molecular diagnostic tests for hereditary genetic disease using innovative methods. Dr. Bale has authored 140 peer-reviewed papers, book chapters, and books in the field of genetics. She serves as President of the Board of Directors of an international adoption agency that specializes in placing older and special needs children. She holds a second degree black belt in judo.

Heidi Rehm

Hakon Hakonarson, M.D., Ph.D.

Director of the Center for Applied Genomics; Associate Professor of Pediatrics, The Perelman School of Medicine, University of Pennsylvania.

Hakon Hakonarson is director of the Center for Applied Genomics and is also an associate professor of pediatrics at The Perelman School of Medicine of The University of Pennsylvania. He leads a $40 million commitment from The Children’s Hospital of Philadelphia (CHOP) to genotype approximately 100,000 children, an initiative that has gained nationwide attention in the Wall Street Journal, New York Times, Time Magazine, Nature and Science.

Dr. Hakonarson has previously held several senior posts within the biopharmaceutical industry, directing a number of genomics and pharmacogenomics projects as vice president of Clinical Sciences and Development at deCODE genetics, Inc. Dr. Hakonarson is the principal investigator (PI) on several National Institute of Health-sponsored grants, including Neurodevelopmental Genomics: Trajectories of Complex Phenotypes, the largest project ever supported by the National Institute of Mental Health. He has published numerous high-impact papers on genomic discoveries and their translations in some of the most prestigious scientific medical journals, including Nature, Nature Genetics and The New England Journal of Medicine. Time Magazine listed Dr. Hakonarson’s autism gene discovery project, reported in Nature in 2009, among the top 10 medical breakthroughs of that year. With over 15 years of experience in pioneering genomics research and genome-wide mapping and association studies, Dr. Hakonarson has intimate knowledge of the complexities of large-scale genomics projects and has put together the necessary infrastructure and workflow processes to unravel these complexities.

Madhuri Hedge

Madhuri Hegde, Ph.D., FACMG

Professor, Executive Director, Emory Genetics Laboratory, Department of Human Genetics, Emory University School of Medicine.

Madhuri Hegde is Professor, Department of Human Genetics at the Emory University School of Medicine and the Executive Director of the Emory Genetics Laboratory. Dr. Hegde has been a Member of Clinical Advisory Board at RainDance Inc, Tessarae Inc., and OGT, UK. The primary focus of Dr. Hegde's clinical work is the development of high-throughput sequencing strategies for rare disorders using sequence capture technologies, robotics, next-generation sequencing, oligonucleotide array platforms, robotics and using predictive analysis tools and biological testing. Her research focuses on functional analysis of sequence variants in disease associated genes, specifically muscular dystrophies, and translating what is learned in the basic research laboratory to clinical practice.

Elaine Mardis

Elaine R. Mardis, Ph.D.

Professor of Genetics and Molecular Microbiology. Co-director, The Genome Institute at Washington University School of Medicine.

Elaine Mardis graduated Phi Beta Kappa from the University of Oklahoma with a B.S. degree in zoology.  She then completed her Ph.D. in Chemistry and Biochemistry in 1989, also at Oklahoma.   Following graduation, Dr. Mardis was a senior research scientist for four years at BioRad Laboratories in Hercules, CA. 

In 1993, Dr. Mardis joined The Genome Institute at Washington University School of Medicine. As Director of Technology Development, she helped create methods and automation pipelines for sequencing the Human Genome.  She currently orchestrates the Center’s efforts to explore massively parallel sequencing technologies and to transition them into production sequencing capabilities as well as new applications.

Dr. Mardis has research interests in the application of DNA sequencing to characterize cancer genomes and transcriptomes, and using these data to support therapeutic decision-making.   She also is interested in facilitating the translation of basic science discoveries about human disease into the clinical setting. 

Dr. Mardis serves as an editorial board member of Molecular Cancer Research, Genome Research and Molecular Oncology, and acts as a reviewer for Nature, the New England Journal of Medicine, Cell and Genome Research.   She serves on the scientific advisory boards of Pacific Biosciences, Inc., DNA Nexus, and ZS Genetics.  Dr. Mardis received the Scripps Translational Research award for her work on cancer genomics in 2010, and was named a Distinguished Alumni of the University of Oklahoma College of Arts and Sciences for 2011.  She is the former chair of Basic and Translational Sciences for the American College of Surgeons Oncology Group (ACOSOG).

Eric Schadt

Eric Schadt, Ph.D.

Director of the Icahn Institute for Genomics and Multiscale Biology, Chair of the Department of Genetics and Genomics Sciences and the Jean C. and James W. Crystal Professor of Genomics.

Eric Schadt is an expert on the generation and integration of very large-scale sequence variation, molecular profiling and clinical data in disease populations for constructing molecular networks that define disease states and link molecular biology to physiology. His research has provided novel insights into what is needed to master diverse, large-scale data collected on normal and disease populations in order to elucidate the complexity of disease and make more informed decisions in the drug discovery arena.  He has contributed to a number of discoveries relating to the genetic basis of common human diseases such as diabetes, obesity, and Alzheimer’s disease, which have been widely published in leading scientific journals.  Dr. Schadt founded the Icahn Institute for Genomics and Multiscale Biology at Mount Sinai in 2011, which now hosts 12 faculty members and roughly 150 staff and research scientists dedicated to the mission of better diagnosing and treating patients using advanced predictive models of disease.

Dr. Schadt is also a founding member of Sage Bionetworks, an open-access genomics initiative designed to build and support databases and an accessible platform for creating innovative dynamic disease models. Prior to joining Pacific Biosciences in 2009 as the Chief Scientific Officer, he was Executive Scientific Director of Genetics at Rosetta Inpharmatics, a subsidiary of Merck & Co., Inc. in Seattle, and before Rosetta, Dr. Schadt was a Senior Research Scientist at Roche Bioscience.  He received his B.A. in applied mathematics and computer science from California Polytechnic State University, his M.A. in pure mathematics and his Ph.D. in bio-mathematics from University of California, Los Angeles.

Jay Shendure

Jay Shendure, M.D., Ph.D.

Associate Professor of Genome Sciences, University of Washington; Affiliate Professor, Division of Human Biology, Fred Hutchinson Cancer Research Center

Jay Shendure is an Associate Professor of Genome Sciences at the University of Washington. He received his MD and PhD from Harvard Medical School. His 2005 PhD with George Church included one of the first successful demonstrations of massively parallel or next generation DNA sequencing. His research group in Seattle has made significant contributions to technologies in genomics including the first demonstrations of exome sequencing to identify genes underlying Mendelian disorders and autism spectrum disorders; the first non-invasive sequencing of a fetal genome; and the haplotype-resolved sequencing of the HeLa genome. He is the recipient of the 2006 TR35 Young Innovator Award from MIT Technology Review, as well as the 2012 Curt Stern Award from the American Society of Human Genetics for outstanding scientific achievements in human genetics that occurred in the last 10 years.