Born in Scotland, Ashley graduated with 1st class Honors in Physiology and Medicine from the University of Glasgow. He completed medical residency and a PhD 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 science of precision medicine. In 2010, he led the team that carried out the first clinical interpretation of a human genome. The article became one of the most cited in clinical medicine that year and was later featured in the Genome Exhibition at the Smithsonian in DC. Over the following 3 years, the team extended the approach to the first whole genome molecular autopsy, to a family of four, and to a case series of patients in primary care.

I am an Assistant Professor in the Department of Pediatrics at UC San Diego. My research interests include pregnancy and early childhood determinants of health. I also am interested in the expansion of methodology to characterize complex exposures across gestation, including substances (alcohol, marijuana) and medications. I am a co-investigator of the Study of Mothers and Infants, a large administrative database linked to biospecimens allowing us to study genetic and environmental contributors to pregnancy and child outcomes.

Allyson Berent is a veterinary internal medicine specialist who serves as the Director of Interventional Endoscopy Services at the largest animal hospital in the world, The Animal Medical Center, in New York City. After graduating from Cornell University College of Veterinary Medicine she completed an internship at the University of Minnesota and a residency in Small Animal Internal Medicine at the Veterinary Hospital of the University of Pennsylvania.

Diana W. Bianchi is the Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and a Senior Investigator in the Center for Precision Health Research at the National Human Genome Research Institute (NHGRI). She received her M.D. from Stanford and her postgraduate training in Pediatrics, Medical Genetics and Neonatal-Perinatal Medicine at Harvard.

Phil Febbo, MD, was appointed as Chief Medical Officer in March 2018. In this role, he is responsible for developing and executing the Company’s medical strategy to drive genomic testing into healthcare practice. Febbo has a successful track record of translational research, clinical excellence, and for embedding molecular insights into clinical care. 

Dr. Frazer is an internationally renowned leader in the field of genome biology. She is the director of UC San Diego Institute for Genomic Medicine and is a professor and founding chief of the Division of Genome Information Sciences in the Department of Pediatrics at UC San Diego. Over the past seven years, Dr. Frazer’s lab has systematically derived and characterized a unique collection of iPSC lines from 222 individuals – referred to as iPSCORE (iPSC Collection for Omic Research). The iPSCORE resource is currently being used to conduct genotype – molecular phenotype correlations in both pluripotent stem cells and iPSC-derived cell types.

Niall J Lennon, Ph.D. is the Senior Director of Translational Genomics at the Broad Institute of MIT and Harvard, where he is also an Institute Scientist. He is also the Chief Scientific Officer and Chair of the Board of Managers of CRSP LLC, Broad’s clinical testing laboratory. Dr. Lennon is also an Associate Director of the Gerstner Center for Cancer Diagnostics. He oversees the development, implementation, and validation of disruptive technologies to serve basic research, clinical research, and clinical diagnostics.

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.

Stephen B. Montgomery is an Associate Professor of Pathology, Genetics and, by courtesy, Computer Science at Stanford University. His laboratory focuses on both functional genomics and bioinformatics approaches to understanding the molecular origins of rare and common genetic diseases. Montgomery has been an active member of multiple large-scale consortia including GREGoR, GTEx and MoTrPAC. His laboratory has developed novel transcriptome-based approaches to identifying impactful rare variants in individuals, families and populations and for measuring gene-by-environment effects.

Dr. Augusto Rendon leads our 70+ bioinformaticians and data scientists at Genomics England. He has a decade of experience growing and leading bioinformatics teams and overseeing the delivery of bioinformatics and genome analysis for population-scale whole genome sequencing initiatives (specifically, the NIHR Bioresource for Rare Diseases, Genomics England’s 100,000 genomes project, and the whole genome component of England’s Genomic Medicine Service). He also enjoys sharing lessons and experiences with similar international initiatives (including Australia, Canada, Germany, and Denmark).

Dr. Kaitlin Samocha is an Assistant Professor at Massachusetts General Hospital and an Associated Scientist at the Broad Institute of MIT and Harvard. She is on the steering committee for the Genome Aggregation Database (gnomAD), one of the world’s largest publicly available collections of human genetic variation data. The focus of her research career has been on developing methods and statistical tools to improve the interpretation of genetic variation, particularly rare variation.

Dr. Stephan Sanders trained as a pediatric physician in the UK before undertaking a PhD and postdoctoral research position at Yale. He is now an Associate Professor at UCSF in the Department of Psychiatry. His research focuses on using genomics and bioinformatics to understand the etiology of developmental disorders, such as Autism Spectrum Disorder (ASD).

Hamish S. Scott, BSc (Hons), PhD, FFSc (RCPA), FAHMS, has transformed his department from being largely diagnostic (40 people) to being a dynamic academic/diagnostic department integrated with basic and clinical research. His department has 35 full-time research personnel and is active in student (science and medical) placements, training (PhDs, registrars, overseas post-docs) and clinical trials. His passion is linking research to diagnostics and clinical translation. He has been imbedded within diagnostic units for all but 8 of his 35 year laboratory career.

Dr. Richard Scott is Chief Medical Officer at Genomics England. He joined the organization in 2015. He is also a Consultant and Honorary Associate Professor in Clinical Genetics at Great Ormond Street Hospital for Children and the UCL Institute of Child Health where his practice focuses on diagnosing children with rare multisystem disorders. Richard trained in medicine at Cambridge University and University College London. He specialized in Paediatrics and subsequently Clinical Genetics in London and completed his Ph.D. in childhood cancer syndromes at the Institute of Cancer Research. Through his clinical practice and in his role at Genomics England he is passionate about harnessing the power of new genomic technologies for the benefit of all patients in mainstream healthcare.

Sharon F. Terry is President and CEO of Genetic Alliance, an enterprise engaging individuals, families and communities to transform health.  Genetic Alliance works to provide programs, products, and tools for ordinary people to take charge of their health and to further biomedical research.

Director of Clinical Informatics at Baylor College of Medicine

Eric Venner is a computational biologist with expertise leading teams of genomic scientists, bioinformaticians and software engineers spanning projects that encompass NGS data analysis, high-throughput genomic variant interpretation, clinical reporting and protein function prediction. He is the Director of Clinical Informatics for the Human Genome Sequencing Center’s Clinical Laboratory at the Baylor College of Medicine, where he is responsible for the architecture, development and maintenance of clinical reporting and bioinformatics pipelines that are in use for multiple genomic medicine projects, including the NIH’s All of Us Research Program and the INSIGHT study in epilepsy and previously for the eMERGE Network, the KidsCanSeq project in collaboration with Texas Children’s Hospital as part of the Clinical Sequencing Evidence-Generating Research (CSER) consortium, the Right10K pharmacogenomics collaboration with the Mayo Clinic, and the HGSC’s HeartCare test. A particular focus is on tools for assessing potential pathogenic genetic variation in a high-throughput manner as well as interoperability with external clinical systems.

As UCSF’s first vice chancellor for Science Policy and Strategy, Keith Yamamoto leads efforts to anticipate the needs of an increasingly dynamic biomedical research endeavor, and to position UCSF optimally, by working within the University as well as influencing and shaping science policy at the state and national levels and beyond.