Serena Nik-Zainal

Serena is a Group Leader at the Wellcome Trust Sanger Institute and explores patterns of mutations (or signatures) that arise in human cells to understand how DNA damage and DNA repair processes contribute towards aging and cancer. She is also an Honorary Consultant in Clinical Genetics at Cambridge University Hospitals NHS Foundation Trust. Serena hunts for mutation signatures in large cancer datasets using computational approaches. She explores these signatures biologically through cell-based model systems. Serena runs a clinical project, Insignia (www.mutationsignatures.org), recruiting patients with DNA repair/replication defects, aging syndromes and neurodegeneration, and people who have been exposed to environmental/occupational mutagens, to gain biological insights into mutational phenomena in these patients.

Julia Oh

Julia Oh received her B.A. from Harvard University and her Ph.D. in genetics from Stanford University. As a graduate student, she developed technologies for high-throughput gene annotation and drug-target discovery in pathogenic fungi. As a postdoctoral fellow at the National Institutes of Health, she studied the human skin microbiome, focusing on microbiome-host interactions and how changes in the microbiome can result in skin disease. In 2015, she joined The Jackson Laboratory as an assistant professor. The goal of her laboratory is to combine high-resolution computational reconstructions of the microbiome with synthetic biology to devise innovative approaches to create novel therapeutic interventions and investigate the underlying ecology of skin microbial communities.

Julian Parkhill

My current research interests centre around the evolution of bacterial pathogens; their origin, transmission and adaptation to selective pressure. I primarily use genomic approaches to address these, and over the last few years my group has used large-scale population genomics to identify the global origin and routes of spread of many human and animal pathogens. We have addressed adaption to the host, to antibiotics and to vaccine pressure, most recently developing new bacterial genome-wide association approaches to identify genetic determinants responsible for this adaptation. Our work has clear translational benefits, and we have been working with local hospitals, national and international agencies, as well as the commercial sector, to enable these, while maintaining our own focus on more basic research. I was elected a Fellow of the Academy of Medical Sciences in 2009, the American Academy of Microbiology in 2012, and the Royal Society in 2014.

Andrew Plump

Andrew Plump, M.D., Ph.D., is the Chief Medical and Scientific Officer (CMSO) for Takeda and is and a member of the company’s Board of Directors. In his position, he leads Takeda’s global R&D organization. Andy provides strategic direction and oversight for all Takeda research and development activities globally.

Andy brings an unwavering focus on patients and a deep commitment to innovation and positive change in the healthcare industry. To continue and accelerate Takeda’s R&D successes, he leads an organization that focuses on people and partnerships, modality diversification, translational medicine and genomics. Prior to assuming his current role, Andy served as Senior Vice President, Research & Translational Medicine, Deputy to the President of R&D at Sanofi where he was responsible for global research and translational medicine across all therapeutic areas. Before his global leadership role at Sanofi, Andy spent more than 10 years at Merck, where he began his industry career in one of the industry’s premier Clinical Pharmacology groups. He ultimately assumed the position Vice President, Worldwide Cardiovascular (CV) Research Head. Andy received his medical degree from the University of California, San Francisco (UCSF), his doctorate in cardiovascular genetics with Dr. Jan Breslow from the Rockefeller University, and his bachelor’s degree from the Massachusetts Institute of Technology. He completed a residency in Internal Medicine and a fellowship in Medical Genetics at UCSF. Following his clinical training, Andy continued his scientific training in neuroscience as a Howard Hughes and Stanley J. Sarnoff postdoctoral fellow, with Dr. Marc Tessier-Lavigne, concurrently assuming faculty responsibilities as an Adjunct Clinical Instructor in the Department of Medical Genetics.

Jennifer Puck

Dr. Puck earned her undergraduate and medical degrees at Harvard University and Harvard Medical School, after which she completed clinical and research training in pediatrics, infectious diseases and immunology at Washington University in St. Louis, Missouri, and Baylor College of Medicine in Houston, Texas. After serving on the faculties of the University of Pennsylvania in Philadelphia and the National Human Genome Research Institute, NIH, in Bethesda, Maryland, she joined UCSF in 2006 as Professor of Pediatrics. In addition to caring for patients as an immunologist and teaching biomedical trainees at all levels, Dr. Puck has a basic and translational research program that focuses on human immune disorders as well as mouse models of lymphocyte development. Dr. Puck has used genetic and genomic technology as well as cellular immunology to study the basis of impaired lymphocyte development as well as immune dysregulation. She has published over 185 peer reviewed research papers in addition to over 100 chapters and reviews; she is co-editor of Primary Immunodeficiencies: A Molecular and Genetic Approach, published in its 3rd edition in 2014.

Mary Relling

Dr. Relling earned her undergraduate B.S. degree from the University of Arizona College of Pharmacy and her doctoral degree from the University of Utah College of Pharmacy.   She completed post-doctoral fellowships with Dr. William Evans at St. Jude and with Dr. Urs Meyer at University of Basel. She joined St. Jude as a faculty member in 1988, and in 2003 was named chair of the Department of Pharmaceutical Sciences.  She is also a professor at the University of Tennessee in the Colleges of Medicine and Pharmacy.

Her primary interests are in treatment and pharmacogenetics of childhood leukemia and clinical implementation of pharmacogenetic testing. Dr. Relling is part of NIH’s Pharmacogenomics Research Network and co-founder of CPIC, the Clinical Pharmacogenetics Implementation Consortium. She has published over 350 original scientific manuscripts. She was elected to the Institute of Medicine in 2009.

Jordan Smoller

Dr. Jordan Smoller is the MGH Trustees Endowed Chair in Psychiatric Neuroscience, Professor of Psychiatry at Harvard Medical School and Professor in the Department of Epidemiology at the Harvard School of Public Health in Boston. He is Associate Chief for Research in the Massachusetts General Hospital (MGH)  Department of Psychiatry and Director of both the Psychiatric and Neurodevelopmental Genetics Unit and the Precision Medicine Research Unit in the MGH Center for Genomic Medicine. Dr. Smoller is a Tepper Family MGH Research Scholar and also serves as Director of the Omics Unit of the MGH Division of Clinical Research and co-Director of the Partners HealthCare Biobank at MGH. He is an Associate Member of the Broad Institute and a Senior Scientist at the Broad’s Stanley Center for Psychiatric Research. He is also Vice President of the International Society of Psychiatric Genetics.  The focus of Dr. Smoller’s research interests has been 1) understanding the genetic and environmental determinants of psychiatric disorders across the lifespan; 2) integrating genomics and neuroscience to unravel how genes affect brain structure and function; and 3) using “big data”, including electronic health records and genomics, to advance precision medicine. He co-chairs the Cross-Disorder Workgroup of the international Psychiatric Genomics Consortium which has been examining how genetic influences transcend diagnostic boundaries. He is a PI in the Electronic Medical Records and Genomics (eMERGE) network and lead PI of the New England Precision Medicine Consortium as part of the NIH Precision Medicine Initiative’s All of Us Research Program. He is an author of more than 300 scientific publications and is also the author of The Other Side of Normal (HarperCollins/William Morrow, 2012).

Ronald J. Wapner

Currently, Dr. Wapner is the Vice Chair of Research in Obstetrics and Gynecology for Columbia University Medical Center and Director of Reproductive Genetics. Prior to Columbia University, Dr. Wapner was a Professor of Obstetrics and Gynecology at Drexel University College of Medicine and taught at Thomas Jefferson University for 22 years where he also served as the Director of Maternal Fetal Medicine. Dr. Wapner is an internationally known physician and researcher specializing in reproductive genetics. He pioneered the development of chorionic villus sampling (CVS) and multi-fetal reduction. He has authored or co-authored over 450 publications and he has been an active investigator in the area of Maternal-Fetal Medicine. Dr. Wapner is either a principal or co-investigator for a number of NICHD sponsored multi-center studies. He currently serves as the center PI for the National Standards for Fetal Growth study as well as the PI for the Environmental influences on Child Health Outcomes (ECHO) program. Recently, Dr. Wapner led a multicenter study evaluating the accuracy, efficacy, and clinical advantages of prenatal diagnosis using microarray analysis. The Society for Maternal-Fetal Medicine has honored Dr. Wapner with both a Lifetime Achievement Award (2015) and The Dru Carlson Memorial Award for Best Research in Ultrasound and Genetics (2012 & 2017). He has had a significant role in the development of multidisciplinary research studies and clinical research centers throughout his career.

Marc S. Williams

Marc S. Williams, MD, FAAP, FACMG, FACMI is a clinical geneticist and informaticist. As of January 2012, he has been the director of the Geisinger Genomic Medicine Institute in Danville, Pennsylvania.  He is the co-PI of the Geisinger Electronic Medical Records in Genomics (eMERGE) project and is the medical director of the whole genome sequencing clinical research project. He is site PI and leads the EHR integration workgroup of the NHGRI funded ClinGen project. He represents Geisinger on the NHGRI Genomic Medicine working group. He has participated in the Personalized Medicine Workgroup of the Department of Health and Human Services’ American Health Information Community Task Force, chaired the CDC’s EGAPP Stakeholder’s Group and was a member of the Secretary’s Advisory Committee for Genetics, Health and Society. He is a member of the EGAPP working group.  He is a past member of the ACMG Board of Directors, and served as Vice-President for Clinical Genetics. He is past chair of the ACMG Committee on the Economics of Genetic Services and founded the ACMG Quality Improvement Special Interest Group. He is a member of the Scientific Advisory Board of the Clinical Pharmacogenetic Implementation Consortium (CPIC) and a member of the CPIC informatics committee and has participated in guideline creation and review for that group. He recently joined the Scientific Advisory Board of the NIH Undiagnosed Diseases Project. He is boarded in clinical informatics and is a member of the AMIA genomics and translational bioinformatics workgroup and was Geisinger’s representative to the Clinical Decision Support Consortium.  He was elected a fellow of the American College of Medical Informatics in 2016. He has authored over 140 articles on a variety of topics including the economic evaluation and value of genetic services, implementation of genomic medicine and the use of informatics to facilitate genomic medicine.

Ami Bhatt

Ami Bhatt is a physician scientist with a strong interest in microbial genomics and metagenomics. Her team’s research program seeks to illuminate the interplay between the microbial environment and host/clinical factors in human diseases. She is a former American Society of Hematology Scholar and a Damon Runyon Clinical Investigator Awardee. Her laboratory focuses on (1) the use of next generation sequencing to define the microbiome and host immunologic features in patients with human diseases and (2) developing custom computational tools for the identification of novel human commensals and pathogens in these inpatient populations, and (3) using statistical and functional biological methods to understand the complex interplay between the human microbiome and host biology. She carries out translational research at Stanford University, and has active collaborations world-wide including in Nigeria and South Africa. She is committed to ensuring that advances in research touch the lives of individuals in all income settings – and thus, in her spare time, enjoys volunteering for the nonprofit she co-founded, Global Oncology. Outside of her academic interests, Ami enjoys the outdoors, baking and dancing.