Human Genetics and Disease Discovery

In honor of David Botstein, PhD, Ronald W. Davis PhD, and David S. Hogness, PhD for their seminal contributions to the concepts and methods of creating a genetic map in the human, and of positional cloning, leading to the identification of thousands of human disease genes and ushering in the era of human genetics.

David Botstein

David Botstein | 2013 Recipient

For their seminal contributions to concepts and methods of creating a genetic map in the human, and of positional cloning, leading to the identification of thousands of human disease genes and ushering in the era of human genetics.

David Botstein, AB ’63, PhD, is the Anthony B. Evnin Professor of Genomics at the Lewis-Sigler Institute for Integrative Genomics at Princeton University. His landmark conceptual breakthrough, published in 1980 together with other collaborators, suggested a way to map human disease genes with DNA polymorphisms, called restriction fragment length polymorphisms. This became a cornerstone of the new science of genomics, which he furthered by co-founding the Saccharomyces Genome Database (with J. Michael Cherry), and applying DNA microarray technology (with Patrick O. Brown) to study genome-wide gene expression, and leveraging this to define subtypes of human tumors.

Dr. Botstein contributed to the discovery of transposons in bacteria and helped uncover their physical and genetic properties. He devised genetic methods to study the eukaryotic cytoskeleton in yeast (Saccharomyces cerevisiae). At Princeton, Botstein is leading a team of faculty teaching a new introductory science curriculum that combines biology, physics, chemistry, and computer science. He taught at MIT from 1967 to 1987, was vice president at Genentech from 1987 to 1990, served as chairman of genetics at Stanford from 1990 to 2003, and then served as Director of the Lewis-Sigler Institute at Princeton from 2003 to 2013. He was elected to the National Academy of Sciences in 1981 and the Institute of Medicine in 1993.

Opening Remarks

Jeffrey S. Flier, MD

Dean of the Faculty of Medicine, Harvard University

Moderated by

Stephen Elledge, PhD

Gregor Mendel Professor of Genetics and Medicine, Harvard Medical School and Brigham and Women’s Hospital; Investigator, Howard Hughes Medical Institute

Fred Winston, PhD

John Emory Andrus Professor of Genetics, Harvard Medical School

Remarks and Reflections

Ronald W. Davis, PhD

Professor of Biochemistry and Genetics; Director, Stanford Genome; Technology Center, Stanford University School of Medicine

David Botstein, PhD

Anthony B. Evnin Professor of Genomics, Princeton University

Invited Speakers

Steven McCarroll, PhD

Assistant Professor, Department of Genetics, Harvard Medical School; Director of Genetics, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard

Where Is the Rest of the Human Genome?

David Altshuler, MD, PhD

Professor of Genetics and of Medicine, Harvard Medical School and Massachusetts General Hospital; Deputy Director and Chief Academic Officer, The Broad Institute of MIT and Harvard

Human Genetic Variation and Common Disease

Richard P. Lifton, MD, PhD

Sterling Professor and Chair, Department of Genetics; Professor of Genetics, Internal Medicine & Molecular Biophysics & Biochemistry, Yale University School of Medicine; Investigator, Howard Hughes Medical Institute

Rare Variants, Therapeutic Targets, and the Future of Medicine

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I am truly honored to be a recipient of the Alpert Award. It is especially meaningful to be recognized by my colleagues for discoveries that helped define the biology of the CTLA-4 and PD-1 pathways. The clinical translation of our fundamental understanding of these pathways illustrates the value of basic science research, and I hope this inspires other scientists.
- Arlene Sharpe

Arlene Sharpe | 2017 Recipient

Dr. Sharpe received her A.B. from Harvard University, where she did undergraduate thesis research in the laboratory of Dr. Jack Strominger.  She received her M.D. and Ph.D. degrees from Harvard Medical School where she did PhD thesis research on reovirus pathogenesis in the laboratory of Dr. Bernard Fields. She completed residency training in Pathology at Brigham and Women’s Hospital and postdoctoral research in the laboratory of Dr. Rudolf Jaenisch at the Whitehead Institute.

She currently is the George Fabyan Professor of Comparative Pathology, Head of the Division of Immunology, and Interim Co-Chair of the Department of Microbiology and Immunobiology at Harvard Medical School. She is a member of the Department of Pathology at Brigham and Women’s Hospital, an Associate Member at the Broad Institute of MIT and Harvard, and Leader of the Cancer Immunology Program at the Dana-Farber/Harvard Cancer Center. Dr. Sharpe is the Co-Director of the Evergrande Center for Immunologic Diseases at Harvard Medical School and Brigham and Women’s Hospital. She has served as a member and chair of the NIH Hypersensitivity, Autoimmunity and Immune-mediated diseases (HAI) study section and is currently a member of NIAID Council. She is also the President of the American Association of Immunologists.

Dr. Sharpe’s functional analysis of costimulatory pathways regulating T cell activation has led to understanding of (1) the roles of B7-1 and B7-2 as positive regulators through CD28 and (2) negative regulators through CTLA-4, and (3) the role of PD-L1 and PD-L2 as negative regulators through PD-1. This functional characterization has provided critical translational insights that underpinned development of immunotherapies for cancer, autoimmune diseases, and transplant rejection.

Dr. Sharpe’s laboratory currently investigates the roles of T cell costimulatory and coinhibitory pathways in regulating T cell tolerance and effective antimicrobial and antitumor immunity, and translating fundamental understanding of T cell costimulation into new therapies for autoimmune diseases and cancer. Dr. Sharpe has published over 300 papers and was listed by Thomas Reuters as one of the most Highly Cited Researchers (top 1%) in 2014 and 2015 and a 2016 Citation Laureate. She received the William B. Coley Award for Distinguished Research in Tumor immunology in 2014 for her contributions to the discovery of PD-1 pathway.

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