Director at Garvan Institute of Medical Research
Dr Daniel MacArthur is the Director of the Centre for Population Genomics, based jointly at the Garvan Institute of Medical Research, Sydney and the Murdoch Children’s Research Institute in Melbourne.
Euan Ashley, MD, PhD, is Associate Professor of Medicine, Genetics and Biomedical Data Science at Stanford University. He is director of the Center for Inherited Cardiovascular Disease, the Clinical Genomics service and the Stanford Data Science Initiative. In 2010, he led the team that carried out the first clinical interpretation of a human genome.In 2013, he was recognized by the White House OSTP for contributions to Personalized Medicine. Currently, he serves as co-chair of the NIH Undiagnosed Diseases Network and sits on the Institute of Medicine Roundtable on Genomics and Health.
He also leads the MyHeart Counts team that collects cardiovascular risk data through an iPhone app. He is co-founder of Personalis and DeepCell.
Jaclyn A. Biegel
CHILDREN’S HOSPITAL LOS ANGELES
Jaclyn A Biegel, PhD, FACMG is the Division Chief of Genomic Medicine and the Director of the Center for Personalized Medicine in the Department of Pathology and Lab Medicine at Children’s Hospital Los Angeles and Professor of Clinical Pathology at the Keck School of Medicine at the University of Southern California. Prior to joining CHLA in 2015, Dr. Biegel rose through the academic ranks to Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, and was the founding director of the Cancer Cytogenetics Laboratory at The Children’s Hospital of Philadelphia. She recently served as editor-in-chief of Cancer Genetics, and is a member of the International System for Cytogenetic Nomenclature committee. Dr. Biegel’s primary research interests are focused on the genetics of pediatric rhabdoid tumors and childhood brain tumors.
UCL GREAT ORMOND STREET INSTITUTE OF CHILD HEALTH
Lyn Chitty,Professor of Genetics and Fetal Medicine at the UCL Great Ormond Street Institute of Child Health and Great Ormond Street NHS Foundation Trust, has published extensively on prenatal diagnosis and ultrasound screening of fetal abnormalities, and was responsible for creating the fetal size standards now in use throughout the UK and beyond. Recently her main research interest has been around the use of circulating cell free DNA. She led an NIHR programme (‘Rapid Accurate Prenatal non-Invasive Diagnosis (RAPID) which resulted in NHS implementation of NIPD for rare diseases, and provided the evidence to support routine implementation into NHS maternity care of NIPT for aneuploidy. She continues to work on the implementation of new molecular techniques to improve prenatal diagnosis through the investigation of whole exome and genome sequencing and extended development of NIPD. She is an editor of the journal Prenatal Diagnosis. In 2014 she was appointed an NIHR Senior Investigator. In addition to her own research, she is Clinical Director of the NIHR Clinical Research Network: North Thames, responsible for delivery of the NIHR portfolio of studies across all specialties, and Clinical Director for the North Thames NHS Genomic Medicine centre which is delivering around 25% of the genomes for the 100,000 Genomes Project. This national transformation programme will result in implementation of personalised medicine in the NHS, and has led to a broadening of her research interests which now includes developing methods to ensure informed consent for sequencing.
COLUMBIA UNIVERSITY MEDICAL CENTER
Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Kennedy Family Associate Professor of Pediatrics and Medicine. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics. Dr. Chung directs NIH funded research programs in human genetics of obesity, breast cancer, pulmonary hypertension, and birth defects including congenital diaphragmatic hernia and congenital heart disease. She leads the Precision Medicine Resource in the Irving Institute At Columbia University. She has authored over 250 peer reviewed papers and 50 reviews and chapters in medical texts. She was the recipient of the American Academy of Pediatrics Young Investigator Award, the Medical Achievement Award from Bonei Olam, and a career development award from Doris Duke. Dr. Chung is renowned for her teaching and mentoring and received Columbia University’s highest teaching award, the Presidential Award for Outstanding Teaching. She was the original plaintiff in the Supreme Court case that overturned the ability to patent genes and the Institute of Medicine Committee on Genetic Testing. Dr. Chung enjoys the challenges of genetics as a rapidly changing field of medicine and strives to facilitate the integration of genetic medicine into all areas of health care in a medically, scientifically, and ethically sound, accessible, and cost effective manner.
CHILDREN’S MEDICAL CENTER RESEARCH INSTITUTE AT UT SOUTHWESTERN
Ralph DeBerardinis, MD, PhD, earned a B.S. in biology from St. Joseph’s University and M.D. and Ph.D. degrees from the University of Pennsylvania. He was the first trainee in the combined residency program in pediatrics and medical genetics at The Children’s Hospital of Philadelphia and received several awards for teaching and clinical care. He ultimately achieved board certification in pediatrics, medical genetics and clinical biochemical genetics. Dr. DeBerardinis performed postdoctoral research in Craig Thompson’s laboratory in the Penn Cancer Center from 2004 to 2007. He joined the faculty of the University of Texas Southwestern Medical Center in 2008 and joined the Children’s Medical Center Research Institute at UT Southwestern (CRI) shortly after its founding in 2012. Dr. DeBerardinis serves as chief of Pediatric Genetics and Metabolism at UT Southwestern and director of the Genetic and Metabolic Disease Program in the CRI. His laboratory is interested in the role of altered metabolic states in human diseases, particularly pediatric inborn errors of metabolism and cancer.
Beth A. Drolet
MEDICAL COLLEGE OF WISCONSIN
Beth Ann Drolet ,MD, is a Professor of Dermatology and Pediatrics and Interim Chair of the Department of Dermatology at the Medical College of Wisconsin. She is a board certified dermatologist, and a fellowship trained pediatric dermatologist. Her pediatric dermatology clinical practice has been with Children’s Hospital of Wisconsin since 1995, where she is currently both the Chief Experience Officer and Medical Director of Birthmarks and Vascular Anomalies. Dr. Drolet is a graduate of Loyola University of Chicago, Stritch School of Medicine and completed her Residency as well as a Pediatric Dermatology Fellowship at the Medical College of Wisconsin.
Dr. Drolet has a special interest in birthmarks and infantile hemangiomas and has created a collaborative research team to improve management of infants with hemangiomas and vascular anomalies. Her team has led several national initiatives to better define high risk vascular lesions and determine the best and safest treatment plans for these conditions. In 2004, she established the Birthmarks and Vascular Anomalies Center at Children’s Hospital of Wisconsin. This unique interdisciplinary team includes nine pediatric specialties which provide comprehensive care for over fifteen hundred patients with rare, complex, and multi-system vascular anomalies. In Dr. Drolet’s new capacity as Chief Experience Officer within Children’s Hospital, she will provide: leadership, coaching and support for activities related to patient and family experience; including the development of skills and resources needed by all employees and providers to improve the Children’s Hospital experience.
Aris N. Economides
Dr. Aris N. Economides received his Ph.D. in Biochemistry from Michigan State University in 1992, and promptly joined Regeneron Pharmaceuticals. He currently holds the position of Vice President, leading two groups: Genome Engineering Technologies, and Skeletal Diseases Therapeutic Focus Area. In addition, he is a co-founder of Regeneron Genetics Center (RGC), where he is also Head of Functional Modeling. Dr. Economides co-invented Cytokine Traps, VelociGene®, and VelocImmune®, all part of an integrated methodology for target discovery, validation, and the generation of biologic drugs such as the IL1 and VEGF traps, as well as therapeutic antibodies. As part of his involvement with the RGC, Dr. Economides has been working to elucidate the molecular pathophysiology of Mendelian disorders. A recent example is his work in Fibrodysplasia Ossificans Progressiva, where he and his team discovered a novel mechanism that explains important aspects of FOP’s pathophysiology and pinpoints a new potential route to therapy.
David R. Fitzpatrick
UNIVERSITY OF EDINBURGH
David FitzPatrick is an academic paediatric geneticist based in at the MRC Human Genetics Unit at the University of Edinburgh. He leads a lab-based research group focused on understanding the genetic basis of developmental disorder and is joint head of the Disease Mechanisms Section. He is a graduate of the University of Edinburgh Medical School and trained in paediatrics and clinical genetics the Royal Hospitals for Sick Children in Edinburgh, Bristol and Glasgow. He was a Wellcome Trust Clinical Training Fellow at the University of Glasgow and subsequently a Howard Hughes Clinical Research Training Fellow with Professor David Valle at Johns Hopkins Hospital in Baltimore. He returned to Edinburgh as a consultant in Clinical Genetics in 1994 and moved to the MRC Human GU in March 2000.
He has a long-standing research interest in the genetic causes of severe developmental disorders. In particular he has worked on finding disease loci for major eye malformations: identifying the major cause as heterozygous, de novo, loss-of-function mutations in SOX2. Whole exome sequencing has enabled the identification of several novel loci such as YAP1 and MAB21L2 for severe bilateral coloboma. David FitzPatrick is also one of the leads on the large-scale, UK-wide, trio-based exome sequencing project Deciphering Developmental Disorders (DDD). This project has collected biological samples and phenotypic data on 14,000 probands with developmental disorders (10,000 with sample from both parents). His specific interest within DDD is the development of the DDG2P reporting pipeline and the identification of discriminative phenotypic patterns that can predict particular disease genes.
A common theme of this work is the requirement for innovative uses of genetic technologies to identify and validate causative mutations affecting the structure or regulation of individual genes.
NATIONWIDE CHILDREN’S HOSPITAL
Dr. Julie Gastier-Foster is the Senior Director of the Institute for Genomic Medicine Clinical Laboratory and Vice Chair of Laboratory Genetics in the Department of Pathology and Laboratory Medicine at Nationwide Children’s Hospital. She is a Professor (Clinical) in the Departments of Pathology and Pediatrics at the Ohio State University College of Medicine. Dr. Gastier-Foster received her PhD in Genetics from Harvard Medical School, and completed her medical genetics training at the Stanford University School of Medicine. She is board-certified in Clinical Cytogenetics and Clinical Molecular Genetics and has nearly 20 years’ experience overseeing CAP/CLIA-certified clinical genetics laboratories. Dr. Gastier-Foster also has significant translational research funding to support the integration of genetic/genomic testing into clinical trials and promote biobanking and tumor processing for new research discoveries. She is responsible for the Children’s Oncology Group (COG) Molecular Reference Laboratories and the COG and SWOG Leukemia Banks. She serves as the Principal Investigator for the COG reference laboratories, providing real time clinical testing for risk-based stratification of COG patients and also works with tumor committees to incorporate new clinical biomarkers. Dr. Gastier-Foster has utilized her biorepository and tumor processing expertise as the Principal Investigator of the National Cancer Institute (NCI) Center for Cancer Genomics Biospecimen Core Resource (BCR) since 2009. The BCR is responsible for tumor pathology review and processing for large scale genomics projects such as The Cancer Genome Atlas (TCGA) and subsequent projects.
NEW YORK UNIVERSITY
Elodie Ghedin, PhD, Professor of Biology and Global Public Health, is a member of the Center for Genomics and Systems Biology at New York University. Her laboratory uses comparative genomics, evolutionary biology, and systems biology techniques to generate critical insight about host-pathogen interactions. Prof. Ghedin studies microbial and viral population structures, and how these impact host response to infection and emerging infectious diseases. Her research has recently focused on characterizing influenza virus diversity within and across infected hosts and the interactions of microbes in the respiratory tract to better understand the dynamics of viral transmission and evolution.
Prof. Ghedin received her BS in Biology and PhD in Molecular Parasitology from McGill University, and a MS in Environmental Sciences from the Université du Québec à Montréal. She was a postdoctorate fellow at the National Institute of Allergy and Infectious Diseases/NIH before joining the Institute for Genomic Research (TIGR; now the J. Craig Venter Institute) where she initiated the Virus Genomics group and led the Influenza Genome Sequencing Project funded by NIAID. She joined the NYU faculty in April 2014, following 8 years at the University of Pittsburgh School of Medicine. In 2011, citing the creativity and collaborative nature of her work, and her contributions to parasitology and virology, Dr. Ghedin was recognized as a fellow by the MacArthur Foundation. In 2012, she was also named a Kavli Frontier of Science Fellow.
Geoffrey S. Ginsburg
DUKE UNIVERSITY SCHOOL OF MEDICINE
Dr. Ginsburg is the founding director for the Center for Applied Genomics & Precision Medicine at the Duke University Medical Center and for MEDx, a partnership between the Schools of Medicine and Engineering to spark and translate innovation. His research addresses the challenges for translating genomic information into medical practice and the integration of precision medicine into healthcare.
He is a member of the Advisory Council to the Director of NIH and is co-chair of the National Academies Roundtable on Genomic and Precision Health and is co-chair of the Global Genomic Medicine Collaborative. He has recently served as a member of the Board of External Experts for the NHLBI, the advisory council for the National Center for Accelerating Translational Science, and the World Economics Forum’s Global Agenda Council on the Future of the Health Sector.
Professor Gail Jarvik
UNIVERSITY OF WASHINGTON IN SEATTLE
Professor Gail Jarvik M.D., Ph.D. is an internist and medical geneticist who holds the Arno G. Motulsky Endowed Chair in Medicine and heads the Division of Medical Genetics at the University of Washington in Seattle. She cares for adult medical genetics patients. Her research focuses on the statistical genetic analysis of common diseases, including cancer, vascular disease, and dementia. She has broad research interests in the implementation of genomic medicine. Her active research in biomedical ethics, includes returning genomic research results to participants and the impact of regulations on genomic research. She is a PI in both the Electronic Medical Records and Genomics (eMERGE) and clinical sequencing exploratory research (CSER) consortia.
Mia A. Levy
SCHOOL OF MEDICINE AND VANDERBILT-INGRAM CANCER CENTER
Dr. Mia Levy is the Director of Cancer Health Informatics and Strategy for the Vanderbilt-Ingram Cancer Center and an Associate Professor of Biomedical Informatics and Medicine at Vanderbilt University Medical Center. Dr. Levy received her undergraduate degree in Bioengineering from The University of Pennsylvania in 1997 and her Medical Doctorate from Rush University in 2003. She then spent 6 years at Stanford University completing post-graduate training in Internal Medicine and Medical Oncology while completing her PhD in Biomedical Informatics. She joined the faculty at Vanderbilt in 2009. She is a practicing medical oncologist specializing in the treatment of breast cancer. Dr. Levy’s research interests include biomedical informatics methods to support the continuum of cancer care and cancer research. Her current research projects include informatics methods for 1) clinical decision support for treatment prioritization of molecular subtypes of cancer, 2) longitudinal clinical plan management, 3) data analytics, and 4) learning cancer systems. She is co-inventor of MyCancerGenome.org, a publically available knowledge resource for genome directed cancer treatment selection.
THE INSTITUTE FOR GENOMIC MEDICINE AT NATIONWIDE CHILDREN’S HOSPITAL
Elaine Mardis, PhD, graduated from the University of Oklahoma with a B.S. in Zoology and completed her Ph.D. in Chemistry and Biochemistry in 1989, also at Oklahoma. Dr. Mardis was a senior research scientist for four years at BioRad Laboratories. She joined the faculty of Washington University School of Medicine in 1993 and has served as Co-director of the McDonnell Genome Institute since 2002. In 2014, Dr. Mardis was named the Robert E. and Louise F. Dunn Distinguished Professor of Medicine. Her research interests focus on the application of next-generation sequencing to characterize cancer genomes and transcriptomes, and to support therapeutic decision-making. Her translational research efforts devise sequencing-based diagnostics, decision-support tools and databases, and the use of genomics to evaluate immunity-related aspects of cancers. In September 2016, Dr. Mardis was named the co-Executive Director of the Institute for Genomic Medicine at Nationwide Children’s Hospital in Columbus, Ohio, where she also joined the faculty of the Ohio State University as Professor of Pediatrics.
Ulrike (Riki) Peters
GENETICS AND EPIDEMIOLOGY OF COLORECTAL CANCER CONSORTIUM (GECCO)
Dr. Peters’ research focuses on the genetic, molecular and nutritional epidemiology of colorectal cancer. Since 2009, she is leading the Genetics and Epidemiology of Colorectal Cancer Consortium, known as GECCO. Within this consortium, she has conducted genome-wide association scans for over 75,000 participants and has undertaken one of the first large-scale whole-genome sequencing studies for colorectal cancer, sequencing the whole genomes of 2,000 patients with colorectal cancer and 1,000 healthy control participants.
Utilizing the rich GECCO data, she and her colleagues build risk models to guide personalize screening decisions based on the individual’s genetic and lifestyle risk profile.
To understand the interplay between genes and environment on the risk of colorectal cancer she is conducting a genome-wide investigation of interactions between genetic risk factors and many lifestyle and environmental risk factors.
Dr. Peters is also leading a project in GECCO to integrate genetic information about both the patient and his or her tumor to study possible associations between environmental risk factors and inherited genetic risk factors for different colorectal cancer subtypes.
Additionally, she leads or co-leads several other collaborative studies, including the Population Architecture Using Genetics and Epidemiology (PAGE) Study and the Colorectal Transdisciplinary (CORECT) Study, which is a part of the Genetic Associations and Mechanisms in Oncology (GAME-ON).
Working with several of these large, international collaborations, Dr. Peters and her colleagues identified 25 new locations in the human genome where people could have genetic variations that put them at increased risk for colorectal cancer. The findings could help improve the assessment of individuals’ risk and point researchers to clues about the underlying biology of this disease, which is the second leading cancer killer in the U.S.
Heidi L. Rehm
PARTNERS HEALTHCARE CENTER FOR PERSONALIZED GENETIC MEDICINE
Heidi L. Rehm, PhD, FACMG is a board-certified clinical molecular geneticist and genomic medicine researcher. She is the Chief Laboratory Director at the Partners Laboratory for Molecular Medicine (LMM), the Clinical Director of the Broad Institute Clinical Research Sequencing Platform and Associate Professor of Pathology at Brigham & Women’s Hospital and Harvard Medical School. Both of her clinical labs focus on the rapid translation of new genetic discoveries into clinical tests and bringing novel technologies and software systems into molecular diagnostics to support the integration of genetics into clinical use. The LMM has been a leader in translational medicine, launching the first clinical tests for cardiomyopathy and lung cancer treatment. The LMM and the Broad CRSP lab offer genomic sequencing services for both clinical diagnostics and to support several genomic medicine research projects including the MedSeq and BabySeq projects and the eMERGE program. Dr. Rehm is also involved in defining standards for the use of next generation sequencing in clinical diagnostics and the interpretation of sequence variants through her committee roles at the American College of Medical Genetics. She is also one of several principal investigators of a major NIH-funded effort called ClinGen (Clinical Genome Resource) to support broad sharing of genotype and phenotype data and clinical annotations of genes and variants. Working closely with the Global Alliance for Genomics and Health she is co-leading the Matchmaker Exchange project to aid in solving rare diseases and co-chairs a subcommittee of the BRCA Challenge to support the international sharing of knowledge on BRCA variation. Dr. Rehm also co-leads a new Center for Mendelian Genomics and conducts research in hearing loss, Usher syndrome, cardiomyopathy, healthcare IT and genomic medicine.
MEMORIAL SLOAN KETTERING CANCER CENTER
Alexandra Snyder,MD, is a translational physician scientist at Memorial Sloan Kettering Cancer Center (MSKCC) who specializes in the study of tumor genetics and response to checkpoint blockade immunotherapy in solid tumors, with a particular focus on ovarian cancer. Dr. Snyder received her medical degree at the Mount Sinai School of Medicine. She completed internal medicine training at Mount Sinai Hospital and medical oncology fellowship at MSKCC, where she was Chief Fellow. She is now an Assistant Attending on the Gynecologic Medical Oncology and Immunotherapeutics services at MSKCC. Her prior studies, published in the New England Journal of Medicine and Science highlighted the correlation between elevated mutation and neoantigen burden and clinical benefit from checkpoint blockade therapies. Her current work extends these methodologies to provide an integrated understanding of the tumor and tumor microenvironment. Her long-term goal is to combine conventional and immune therapies in ovarian cancer in order to permit disease control by the immune system, with decreased toxicity and increased survival.
Kathryn Sykes, PhD, has over 20 years of experience developing innovative molecular and chemical technologies to manipulate the immune system toward better health. While a co-founder of the cancer vaccine company Calviri, she is also the VP of Research at HealthTell, Inc., which is developing global measurements of immune health. Previously, she was an Assistant Professor in the School of Life Sciences at the Biodesign Institute at Arizona State University. There her research focused on inventing molecular, bead and array-based approaches to enable novel vaccine discovery against infectious and chronic diseases At the University of Texas Southwestern Medical she pursued technologies that became the basis of a Texas biotechnology company that was ultimately acquired by MacroGenics, Inc. As their Director of Research, she implemented high-throughput, synthetic methods for genetic engineering and combinatorial screening toward discovery of new protective antigens. Dr. Sykes received her B.S. in Biology and Economics from Duke University and her Ph.D. in Biochemistry from Duke University Medical Center.
Joyce Tung, PhD is Vice President of Research for 23andMe. She joined 23andMe in 2007 and manages the 23andMe research team, which is responsible for consumer health and ancestry research and development, academic and industry collaborations, computational analyses for therapeutics, and new research methods and tools development. While a postdoctoral fellow at Stanford University, Joyce studied the genetics of mouse and human pigmentation. She earned her PhD in Genetics from the University of California, San Francisco where she was a National Science Foundation graduate research fellow.
Nicholas Valiante, PhD, is head of research at Caperna, LLC. After receiving a PH.D. in immunology from the University of Pennsylvania and a post-doctoral fellowship at Stanford University, Nick joined Chiron Corporation (later Novartis) as a senior scientist in 1997. Throughout various corporate reorganizations, mergers and acquisitions, he moved up through the research and development organization to become Global Head of Immunology and Immunotherapy with responsibility for >150 scientists worldwide and he won the Novartis Leading Scientist Award in 2012. In September 2015 Nick joined Moderna Therapeutics, a biotech startup in Cambridge, MA, where he and his team are bringing mRNA-based personalized cancer vaccines to clinical trials this year.
Clara Van Karnebeek
BC CHILDREN’S HOSPITAL
Clara van Karnebeek, MD, PhD, FCCMG, is an Investigator with BC Children’s Hospital and the principal Investigator at the Centre for Molecular Medicine and Therapeutics. She is also a clinical Assistant Professor, Division of Biochemical Diseases, Department of Pediatrics, Faculty of Medicine, University of British Columbia. Her research areas include:
- Discovery of novel gene defects via integrated genomics and metabolomics
- Treatable inborn errors of metabolism causing intellectual disability and epilepsy
- Clinical and digital tools for the prevention, enhanced diagnosis and treatment of intellectual disability
Dr. van Karnebeek’s research is aimed at discovering new inborn errors of metabolism, a class of genetic diseases that is particularly amenable to treatment. Her team uses a multidisciplinary approach involving the study of three “-omics” in patients: phenomics, their physical and biochemical properties, genomics, their genetic information, and metabolomics, their metabolite profiles. She established two large collaborative efforts, the Treatable Intellectual Disability Endeavor in BC (TIDEBC.org with Sylvia Stockler), and the international Omics2TreatID (omics2treatid.org), aimed at harnessing these new technologies for the discovery of genetic defects in children who present with intellectual disabilities and providing clinicians the tools for early recognition and management.
Ignatia B. Van Den Veyver
BAYLOR COLLEGE OF MEDICINE AND TEXAS CHILDREN’S HOSPITAL
Ignatia B. Van den Veyver, M.D. is a Professor in the Department of Obstetrics and Gynecology and the Department of Molecular and Human Genetics in Houston, Texas. She is Director of Clinical Prenatal Genetics at Baylor College of Medicine and Texas Children’s Hospital and a faculty member of the Texas Children’s Hospital Fetal Center. Her clinical translational research focuses on exploring novel genetic and genomic methods of prenatal genetic testing and the complexities of their integration into prenatal care with a specific interest in application of prenatal exomes, counseling for various new technologies and development of cell-based non-invasive prenatal diagnosis. She also oversees a research laboratory located in the Jan and Dan Duncan Neurological Research Institute where she performs translational and basic research on the molecular genetics and epigenetics of human developmental disorders and reproductive epigenetics. She has published extensively in these various fields and her research is funded by the NIH and private foundations. She is also President (2016-2018) of the International Society for Prenatal diagnosis.