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 very much humbled by all the great scientists before us. Although our initial mapping of the CF gene to chromosome 7, followed by the gene identification work, was the first step in defining the basic defect of CF, difficult as it was, I am happy that the award also recognizes those people who have spent their lives improving the health of patients with this devastating disease, studying its pathophysiology and devising effective treatments. I would be remiss if I did not mention also the contributions of Jack Riordan, Johanna Rommens and Batsheva Kerem and the rest of my Toronto team in the CF gene cloning effort.
- Lap-chee Tsui

Lap-chee Tsui | 2018 Recipient

Professor Lap-Chee Tsui is the Founding President of the Academy of Sciences of Hong Kong, President of the Victor and William Fung Foundation, Director of Qiushi Academy for Advanced Studies and Master of the Residential College of International Campus, Zhejiang University.  He is also the University of Toronto’s Emeritus University Professor.

He is the immediate-past Vice Chancellor of The University of Hong Kong, prior to which, he was Geneticist-in-Chief at the Hospital for Sick Children in Toronto and University Professor at University of Toronto, Canada
He received his Bachelor and Master degrees from the Chinese University of Hong Kong and his PhD from University of Pittsburgh.  He is world renowned for his research work in human genetics and genomics, including the identification of the gene for Cystic Fibrosis, which is an important piece of work in defining the basic defect of the disorder and in human genetic disease research as a whole. His other contributions include the cloning and characterization of mammalian crystallin genes and a comprehensive mapping and characterization of human chromosome 7.

Professor Tsui has over 300 peer-reviewed scientific publications and 65 invited book chapters.  He is the recipient of many national/international prizes, and is a Fellow of Royal Society of Canada, Royal Society of London and Academia Sinica.  He is a Associate Member of the National Academy of Sciences USA, a Foreign Member of Chinese Academy of Sciences, and is a Canadian Medical Hall of Fame Laureate.  His other awards include 15 honorary doctoral degrees, the Orders of Canada and Ontario, and the Grand Bauhinia Medal and Gold Bauhinia Star, and Justice of the Peace from Hong Kong.

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