Future: Genome Research

Anthony B. Evnin Professor of Genomics; Director, Lewis-Sigler Institute for Integrative Genomics; Director, Certificate Program in Quantitative and Computational Biology, Princeton University.

Prof. David Botstein has been the intellectual leader of genomics since its inception. He created modern human genetics, championed the Human Genome Project, devised microarrays to exploit genome information for the global assessment of gene expression and fostered systems biology. He has mentored numerous young scientists in the field, first at MIT, later at Stanford and most recently at Princeton.

Botstein’s 1980 paper Construction of a Genetic Linkage Map in Man Using Restriction Fragment Length Polymorphisms was the first to explicitly argue that it would be possible to build a sufficiently dense map of markers through the human genome to permit the mapping of disease genes in families by monitoring the transmission of those markers and disease status through the families. The vision outlined in this paper provided not only the clearest early motivation for the initiation of the human genome project, but its clarity and beauty drew many scientists into the field of genomics.

Following these seminal contributions he has been an intellectual participant in many of the most important key developments in genomics, the most prominent examples of which are: a) the development along with Pat Brown of methods to measure and statistically analyze gene expression profiles and apply these methods to the identification of subtypes of cancer. It would be impossible to overstate the impact of this work both in terms of basic biological research and the direction of thinking about molecular taxonomies of disease;  b) articulation of the need to organize genes into biological groupings to permit systematic pathway analyses, and the initiation of generic systems to do so.  Interestingly, these last areas are clear antecedents of what is now coming to be known as systems biology and which David Botstein is again one of the key intellectual figures.

Among Prof. Botstein’s awards and honors are: Member of the U.S. National Academy of Sciences, the Eli Lilly and Company Award in Microbiology, the Genetics Society of America Medal, the Allen Award of the American Society of Human Genetics, and the Gruber Prize in Genetics.