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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Shortly after the discovery of the CFTR gene, I wrote a song called “Dare to Dream.” The lyrics expressed the hope that someday the gene discovery would lead to effective treatments for cystic fibrosis—that someday we would see “all our brothers and sisters breathing free.” It is intensely gratifying to see that dream now coming true. And it is a profound honor to have the chance to share in this Warren Alpert recognition with other heroes who have made it possible. That includes my friend Lap-Chee Tsui, whose team worked with Mitch Drumm, Mike Iannuzzi, and others in my group in an unprecedented international collaboration that effectively merged our labs. And it includes Drs. Welsh, Ramsey and Negulescu, who are truly inspiring leaders in the work that led to the current therapeutic advances. They all dared to dream.
- Francis Collins

Francis Collins | 2018 Recipient

Francis S. Collins, M.D., Ph.D. was appointed the 16th Director of the National Institutes of Health (NIH) by President Barack Obama and confirmed by the Senate. He was sworn in on August 17, 2009. On June 6, 2017, President Donald Trump announced his selection of Dr. Collins to continue to serve as the NIH Director. In this role, Dr. Collins oversees the work of the largest supporter of biomedical research in the world, spanning the spectrum from basic to clinical research.

Dr. Collins is a physician-geneticist noted for his landmark discoveries of disease genes and his leadership of the international Human Genome Project, which culminated in April 2003 with the completion of a finished sequence of the human DNA instruction book. He served as director of the National Human Genome Research Institute at NIH from 1993-2008.

Before coming to NIH, Dr. Collins was a Howard Hughes Medical Institute investigator at the University of Michigan. He is an elected member of the National Academy of Medicine and the National Academy of Sciences, was awarded the Presidential Medal of Freedom in November 2007, and received the National Medal of Science in 2009.

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