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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This prestigious award is a great honor for myself, my research team and my country
- Alain Carpentier

Alain Carpentier | 2011 Recipient

In recognition of their application of bioengineering principles to fundamental improvements in human health.

Alain F. Carpentier, MD, PhD is a cardiac surgeon involved inboth research and clinical practice. He received his Doctoratein Medicine in 1966 from the University of Paris and in 1975 he received his PhD in chemistry from the Faculty of Sciences at the University of Paris. He was appointed as a member of the cardiac surgery staff of Hôpital Broussais in 1968 before being named Chief of the service in 1982. He has also been appointed Adjunct Professor of Cardiac Surgery at Mount Sinai School of Medicine in New York.

Carpentier has authored more than 500 scientific publications and ten books. He is the recipient of many scientific distinctions and awards including the Albert Lasker Medical Research Award in 2007, the Grand Prix Mondial Cino del Duca in 1996 and the 5th Scientific Achievement Award of the American Association for Thoracic Surgery in 2005. He is an honorary member of several prestigious international scientific societies and universities and was elected President of the French Academy of Sciences in 2011. He has developed numerous teaching programs worldwide, and founded the Vietnam Heart Institute in Ho Chi Minh City, regarded by the World Heart Organization as the most successful program in transferring technology and responsibility to developing countries.

Regarded as the father of reconstructive valve surgery, Carpentier developed the world’s first artificial valve used in clinical practice. The “Carpentier-Edwards valve” utilizes chemical processing of animal tissues to prevent immunological reaction when implanted in other species and currently benefits more than 100,000 patients each year. Other scientific original contributions include mini invasive and robotic cardiac surgery. Recently, his research team developed and implanted the first successful artificial bronchus to avoid pneumonectomy in lung cancer.

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