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 thrilled to have made a difference in the lives of cancer patients and to be recognized by fellow scientists for my part in the discovery of the PD-1/PD-L1 and PD-L2 pathway and its role in tumor immune evasion. I am deeply honored to be a recipient of the Alpert Award and to be recognized for my part in the work that has led to effective cancer immunotherapy. The success of immunotherapy has unleashed the energies of a multitude of scientists to further advance this novel strategy.
- Gordon Freeman

Gordon Freeman | 2017 Recipient

Dr. Freeman grew up in Fort Worth, Texas where he was introduced to scientific research in his high school’s research lab and an NSF summer program at the University of Texas, Austin.  He did his undergraduate work at Harvard, doing structural work in Don Wiley’s lab.  He then did his PhD work with Alice Huang at Harvard Medical School on animal virus genetics. He did post-doctoral work on genes regulating T cell activation, first with Harvey Cantor and then Lee Nadler at the Dana-Farber Cancer Institute. He was appointed Assistant Professor of Medicine at Harvard Medical School in 1994 and Professor in 2015.

Freeman’s research has identified the ligands for the major pathways that control the immune response by inhibiting T cell activation (PD-L1 or PD-L2/PD-1 and B7-2/CTLA-4) or stimulating T cell activation (B7-2/CD28).  He showed that engagement of PD-1 by PD-L1 or PD-L2 inhibited T cell activation, cytokine production, and cytolytic activity whereas blockade enhanced these activities. This has led to a successful strategy for cancer immunotherapy: block the pathways that tumors use to turn off the immune response.

Dr. Freeman’s laboratory focuses on the identification and function of T cell costimulatory and coinhibitory pathways in regulating T cell activation and application of this knowledge to the development of more effective immunotherapies for cancer, infections, asthma, and autoimmune diseases. Dr. Freeman has published over 300 scientific papers and holds over 50 US patents on immunotherapies. He was listed by Thomas Reuters as a 2016 Citation Laureate for contributions to the field of Physiology or Medicine. He received the William B. Coley Award for Distinguished Research in Tumor Immunology in 2014 and the Laguna Biotech CEO Forum award for his contributions to the discovery of the PD-1 pathway.  His contributions to the development of PD-1 immunotherapy for Hodgkin lymphoma received the Lymphoma Hub award for best research paper in lymphoma in 2014.

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