External Scientific Consultants
Pavel Pevzner, PhD, is the Ronald R. Taylor Chair and Distinguished Professor of Computer Science and Engineering at the University of California, San Diego, where he directs the NIH Center for Computational Mass Spectrometry. He holds a Ph.D. from Moscow Institute of Physics and Technology in Russia. His research focuses on genome sequencing, immunoproteogenomics, antibiotics sequencing, comparative genomics and computational technologies. He is known for creating applications that allow scientists to solve biological problems. He was named Howard Hughes Medical Institute Professor in 2006. He was elected to the Association for Computing Machinery Fellow (2010) for “contribution to algorithms for genome rearrangements, DNA sequencing, and proteomics.”
Matt Lebo, PhD, FACMG, joined Partners Personalized Medicine as an Assistant Laboratory Director for the Laboratory for Molecular Medicine in 2011 following the completion of his ABMG molecular genetics fellowship training at the Harvard Medical School Genetics Training Program. Dr. Lebo became the head of Bioinformatics at Partners Personalized Medicine and Associate Laboratory Director for the Laboratory for Molecular Medicine in the fall of 2013. In 2018, he became the Director of the Laboratory for Molecular Medicine.
Sandra Soo-Jin Lee, Ph.D is Chief of the Division of Ethics and faculty in the Department of Medical Humanities and Ethics at Columbia University. Dr. Lee leads NIH-funded multidisciplinary studies of the sociocultural dimensions and ethical issues in genomics, precision medicine, artificial intelligence, and team science, with a focus on race, diversity, and equity. She is Co-Principal Investigator of the CERA, the Center for the Ethical, Legal, and Social Implications Resources and Analysis, and is a Hastings Center Fellow. Dr. Lee currently serves on both the Scientific and Bioethics Advisory Boards of the Kaiser Permanente National Research Biobank and the NIH/NHGRI Genomics and Society Working Group. Dr. Lee received her doctorate from the UC Berkeley/UCSF joint program in Medical Anthropology and her undergraduate degree in Human Biology from Stanford University.
Deanna Church, PhD, is currently, the Senior Director of Mammalian Applications at Inscripta, Inc. Her previous work included Senior Director of Software Applications at 10X Genomics where she led a team of multidisciplinary scientists focused on improving genome and Senior Director of Genome Content at Personalis, Inc, where she led a team focusing on genome analysis and variant interpretation. Prior to working in the biotech industry, Dr. Church was a senior member of NCBI, where her work focused on coordinating variation resources, helping build the human and mouse reference assemblies, and building infrastructure for web-based genome analysis tools. She has more than 35 publications, many of which focus on the human reference.
Martin Hirst, is a Senior Scientist and Head of Epigenomics at Canada’s Michael Smith Genome Sciences Centre at BC Cancer, Associate Professor in the Department of Microbiology and Immunology, and Associate Director of the Michael Smith Laboratory at the University of British Columbia (UBC). His research focuses on understanding epigenetic dysfunction in cancer by developing experimental and computational tools. Over the last decade, he has led epigenomic research program at BC Cancer and UBC. He also leads the Centre of Epigenomic Mapping Technologies (CEMT) that represents one of two Canadian epigenomic mapping centres funded by the Canadian Epigenetics, Environment and Health Research Consortium (CEEHRC).
Charmaine Royal is the Robert O. Keohane Professor of African & African American Studies, Biology, Global Health, and Family Medicine & Community Health at Duke University. She directs the Duke Center on Genomics, Race, Identity, Difference, and the Duke Center for Truth, Racial Healing & Transformation. Her global research and scholarly work span ethical, social, scientific, clinical, and policy implications of human genetics and genomics, with an emphasis on issues at the intersection of genetics and race. Dr. Royal obtained a bachelor’s degree in microbiology, a master’s in genetic counseling, and a doctorate in human genetics from Howard University. She completed postgraduate training in ethical, legal, and social implications (ELSI) research and bioethics at the National Human Genome Research Institute of the National Institutes of Health, and in epidemiology and behavioral medicine at Howard University Cancer Center.
Dr. Sharon Plon is a board-certified medical geneticist who holds the Dan L Duncan Comprehensive Cancer Center Professorship at Baylor College of Medicine in the Departments of Pediatrics and Molecular and Human Genetics and is a member of the Human Genome Sequencing Center. She has a longstanding career as a cancer genetics researcher with a focus on identifying new cancer susceptibility genes and studying the implementation of genomic testing in medicine. Dr. Plon served as Principal Investigator with Donald (Will) Parsons and Amy McGuire on the NHGRI/NCI-U01 Texas KidsCanSeq multi-institutional trial that studied the incorporation of CLIA clinical genome-scale exome sequencing into the care of childhood cancer patients and currently co-chairs the germline reporting effort of the national NCI/COG Pediatric MATCH Precision Oncology trial which incorporated germline testing into a national treatment trial of children with refractory cancer. Since 2013, Dr. Plon has served as one of the Principal Investigators of the Clinical Genome (ClinGen) Resource and co-chairs the Hereditary Cancer Clinical Domain with over ten variant and gene curation expert panels. Most recently, she is leading a new project to explore incorporating cancer susceptibility genes into newborn screening. Dr. Plon is a prior member of the National Advisory Council for Human Genome Research and Board of Directors of American Society of Human Genetics.
John Novembre is a Professor at the University of Chicago in the Departments of Human Genetics and Ecology & Evolution. His research develops computational methods to analyze genetic variation within species, and his work has especially had an impact on the analysis of geographic patterns in human genetic variation. More broadly, his work often addresses the challenges of data visualization with genetics and genomics data. Dr. Novembre has authored more than 50 peer-reviewed publications and has been awarded as a MacArthur Fellow, Searle Scholar, and Sloan Research Fellow, and his current research is supported by the National Institutes of Health. He also serves as an academic editor for the journal Genetics.