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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The award is a great honor, and I really appreciate your recognition of my personal achievements and contribution of my team at the Institute of Biotechnology of Vilnius University. It is great a privilege to be among such outstanding current and former awardees of Warren Alpert Foundation. This prize makes my work even more enjoyable and challenging.
- Virginijus Siksnys

Virginijus Siksnys | 2016 Recipient

Dr. Virginijus Siksnys studied chemistry at Vilnius University and obtained his Ph.D. from Moscow State University before returning to Vilnius where he moved through different research ranks at the Institute of Applied Enzymology/Institute of Biotechnology. He holds the position of Professor of Vilnius University since 2002 and is Chief scientist/Department head at the Institute of Biotechnology of Vilnius University. He also serves as a Chairman of the Institute’s Board. He is a member of Lithuania Academy of Sciences and his work has been recognized with several awards including the Lithuania National Science Prize. Dr Siksnys has made a major and sustained contribution to the understanding of the structure and function of restriction enzymes. His current research on the CRISPR system for antiviral defense has had a major impact on the field. His studies of the Cas9 protein paved the way for development of novel tools for genome editing applications.

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