Scripps Genomic Medicine Award
The Scripps Translational Science Institute and Scripps Genomic Medicine honor the achievements of scientists whose pioneering research contributions have paved the way for great advances in the field of genomic medicine. The Scripps Genomic Medicine Award is given in recognition of outstanding efforts to spearhead genomic knowledge and transform the daily practice of medicine.
The recipient of the Scripps Genomic Medicine Award is announced at the annual Future of Genomic Medicine conference, held in La Jolla, CA in March.
George M. Church, PhD, Professor of Genetics, Harvard Medical School
George Church is Professor of Genetics at Harvard Medical School and Director of PersonalGenomes.org, which provides the world’s only open-access information on human Genomic, Environmental & Trait (GET) data. His 1984 Harvard PhD included the first methods for direct genome sequencing, molecular multiplexing and barcoding. These led to the first genome sequence (pathogen – Helicobacter pylori) in 1994. His innovations have contributed to nearly all “next generation” DNA sequencing methods and companies (CGI-BGI, Life, Illumina, Nanopore). This plus his lab’s work on chip-DNA-synthesis, gene editing and stem cell engineering resulted in founding additional application-based companies spanning fields of medical diagnosis (Knome, Alacris, AbVitro, Pathogenica, Veritas Genetic) and synthetic biology/therapeutics (Joule, Gen9, Editas, Egenesis, enEvolv, WarpDrive). He has also pioneered new privacy, biosafety, environmental and biosecurity policies. He is director of an IARPA BRAIN Project and NIH Center for Excellence in Genomic Science. His honors include election to NAS, NAE and Franklin Bower Laureate for Achievement in Science. He has coauthored 400 papers, 74 patent publications and one book (Regenesis).
Francis S. Collins, MD, PhD, Director, National Institutes of Health
Francis S. Collins, M.D., Ph.D., a physician-geneticist noted for his landmark discoveries of disease genes, and his visionary leadership of the Human Genome Project (HGP), is the director of the National Institutes of Health and the former director of the National Human Genome Research Institute (NHGRI). Dr. Collins, served as NHGRI’s director since April 1993. Beside leading the Human Genome Project (HGP) to completion, he initiated a wide range of research projects that built upon the foundation laid by the sequencing of the human genetic blueprint.
As head of NHGRI, Collins oversaw the HGP, the multidisciplinary, multi-institutional, international effort to map and sequence the 3 billion letters in the human DNA instruction book. Many consider this project to have been the most significant scientific undertaking of our time. The ultimate goal is to improve human health.
Jay Shendure, MD, PhD, Professor of Genome Sciences, University of Washington
Jay Shendure is a scientist and human geneticist at the University of Washington School of Medicine. Shendure’s research focuses on developing and applying new technologies in genomics. His research group pioneered exome sequencing and its application to Mendelian disorders, a strategy that has been applied to identify hundreds of disease-causing genes. Other notable accomplishments include the first whole genome sequencing of a human fetus using samples obtained non-invasively from the parents, and the sequencing of the HeLa genome in agreement with Henrietta Lack’s family.
Shendure graduate summa cum laude from Princeton University in 1996 and completed a Fulbright scholarship at Pune, India, in 1997. He then entered the Medical Scientist Training Program at Harvard Medical School and received his PhD in 2005 and his MD in 2007. He joined the faculty at the Department of Genome Sciences at the University of Washington in 2007 and was tenured as an associate professor in 2011.
Stephen F. Kingsmore, MD, DSc, President & CEP, Rady Pediatric Genomic and Systems Medicine Institute
Dr. Kingsmore is President and CEO of the Rady Pediatric Genomics and Systems Medicine Institute at Rady Children’s Hospital in San Diego. Among his pioneering achievements, Dr. Kingsmore developed the 50 hour genome, a process that allows doctors to decode and interpret a newborn baby’s genome in just two days. The genetic test, named one of the top 10 medical breakthroughs of 2012 by Time Magazine, rapidly screens the DNA of babies for about 4,500 diseases known to be linked to single-gene mutations.
Prior to joining Rady Children’s, Dr. Kingsmore served as Executive Director of Medical Panomics at Children’s Mercy Kansas City. He was the Founding Director of the Center for Pediatric Genomic Medicine at Children’s Mercy, during which time his team decoded the genome of more than 1,700 children and parents.
Howard Jacob, MD, Founder, President & Chief Scientific Officer, Envision Genomics, Inc.
Dr. Jacob is President and Chief Scientific Officer of Envision Genomics, Inc. and Executive Vice President for Genomic Medicine, Chief Medical Genomics Officer and Faculty Investigator at the HudsonAlpha Institute for Biotechnology. His research focuses on using clinical genomics to discover undiagnosed disorders.
He has over 240 scientific publications and has secured $85 million in grant funding from the National Institutes of Health over the last 19 years. Dr. Jacob is currently the Vice-Chairman of the Board of Trustees for Alverno College and a member of the National Advisory Board for the National Human Genome Research Institute (NHGRI).
Daniel Von Hoff, MD, FACP, Physician-in-Chief & Distinguished Professor, Translational Genomics Research Institute (TGen)
Dr. Daniel D. Von Hoff is a medical oncologist and oncology drug developer, who has dedicated his career to translational medicine. His major interest is in the development of new anticancer agents, both in the clinic and in the laboratory. At TGen, Dr. Von Hoff and his team are focused on targeted new anti-cancer agents. The lab uses genetic and biochemical approaches to identify molecular targets for the development of new therapies for patients with pancreatic cancer.
In addition to his position at TGen, he is currently Professor of Medicine at Mayo Clinic, Scottsdale and the University of Arizona College of Medicine. He is also Chief Scientific Officer at Scottsdale Healthcare and US Oncology, and Clinical Professor of Medicine at the University of Arizona.
He is a Fellow of the American College of Physicians, and has been a member of the Board of Directors of the American Society of Clinical Oncology, as well as a member of the FDA’s Oncology Drug Advisory Committee.
Elaine R. Mardis, PhD, Robert E. and Louise F. Dunn Distinguished Professor of Medicine, Washington University
Dr. Elaine R. Mardis is director of technology Development at the McDonnell Genome Institute at Washington University in St. Louis, Missouri. Her research interests include the application of next-generation 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, Disease Models and Mechanisms and Annals of Oncology, and as a reviewer for Nature, the New England Journal of Medicine, Cell, and Genome Research. She serves on the scientific advisory boards of Qiagen Ingenuity, DNA Nexus, and ZS Genetics. Dr. Mardis received the Scripps Genomic Medicine Award for her work on cancer genomics in 2010, and was names a Distinguished Alumni of the University of Oklahoma College of Arts and Sciences in 2011. Discover Magazine featured her work in cancer genomics as one of their top 100 science stories in 2013.
Hakon Hakonarson, MD, PhD, Director, Center for Applied Genomics, The Children’s Hospital of Philadelphia
Dr. Hakonarson is the director of the Center for Applied Genomics (CAG) at the Children’s Hospital of Philadelphia and Associate Professor of Pediatrics at University of Pennsylvania School of Medicine. His research interest focuses on human genetics, specifically identifying genetic variants that underlie autism spectrum and other complex medical disorders. Gaining a better understanding of these genetic variabilities can help identify the causes and presence of these disorders as early as possible and provide more focused treatment.
With over ten years of experience in pioneering genomic research and genome-wide mapping and association studies, Hakonarson has intimate knowledge of the complexities of large-scale genomics projects.
Recently CAG contributed an immense genotype dataset to the Autism Genetic Resource Exchange (AGRE). This large genetic dataset is now accessible to autism researchers worldwide. Within this large-scale project, CAG analyzed DNA blood samples of 4,500 individuals and compiled 550,000 genetic markers for each person. Studying patterns of variation in those genotypes will help researchers to discover and investigate multiple genes that may contribute to autism.
Samuel Levy, MD, Former Director, Genomic Sciences, Scripps Translational Science Institute
Dr. Samuel Levy is currently the Executive Director of Genomics Sciences at Celgene Quanticel Research. In 2007, he sequenced the first human diploid genome.