Every year, the Director's Office of the National Institutes of Health awards major grants to researchers who challenge the status quo. Once again several MGH investigators are among the recipients of these prestigious awards. Vamsi Mootha, MD, of Molecular Biology, has received one of 17 Transformative Research Project Awards to investigate his novel approach for treating disorders of the subcellular power plants called mitochondria.

The Curt Stern Award is given annually by ASHG in recognition of major scientific achievement in human genetics that has occurred in the last 10 years. The work could be a single discovery, or a series of contributions on a similar or related topic. This Award honors the memory of Dr. Curt Stern (1902-1981) as an outstanding pioneer in human genetics who served as ASHG president in 1956. An engraved crystal award and a monetary prize will be presented to the Stern Award recipient at the Society’s Annual Meeting.

Endocrinologist and human geneticist David Altshuler, MD, PhD, is honored as this year’s recipient of the ASHG Curt Stern Award for his outstanding contributions as a leader in the study of human genetic variation and its application to common, complex diseases using tools and knowledge gained from the Human Genome Project.

Altshuler is a co-founder and currently serves as Deputy Director and Chief Academic Officer of the Broad Institute and Director of the Institute’s Program in Medical and Population Genetics, which has pioneered new models of scientific collaboration. He is also a Professor of Genetics and Medicine at Harvard Medical School, and in the Department of Molecular Biology at the Center for Human Genetic Research, as well as at the Diabetes Unit at Massachusetts General Hospital. Altshuler is currently a member of the ASHG Board of Directors.

Altshuler’s work has provided key scientific contributions that have enabled researchers to gain a better understanding of the genetic basis of diseases and helped to identify the gene variants that influence the risk of common conditions, focusing primarily on type 2 diabetes as well as blood cholesterol, myocardial infarction, prostate cancer, systemic lupus erythematosis, and rheumatoid arthritis. His research findings have provided new clues regarding the underlying mechanisms that cause these diseases, and more generally, provided a blueprint for analyzing the role of genetic variations in human health and disease.

David Altshuler has been a lead investigator of several major projects to help create shared research resources – including the SNP Consortium, the International HapMap Project, and the 1,000 Genomes Project. These fundamental resources have aided human geneticists in their efforts to discover disease-causing genes by providing publicly-accessible maps of human genome sequence variation data. Together with his long-term collaborators Mark Daly and Stacey Gabriel, Altshuler has contributed laboratory and analytical methods for applying these insights in disease research.

Furthermore, Dr. Altshuler has also played a key role increasing scientific collaboration in human genetics on an international level. In partnership with Mike Boehnke, Leif Groop and Mark McCarthy, Altshuler established the DIAGRAM Consortium, which has steered genetic research in type 2 diabetes towards a more collaborative, team-based approach coupled with a strong commitment to advancing the careers of junior investigators and making data publicly available to the scientific community.

Overall, Dr. Altshuler’s work has had an enormous impact on the human genetics field by laying the foundation for systematic genetic studies of human disease. In doing so, he has been a leader in taking the important step towards effectively integrating the study of genetics, genomics, and medicine. The American Society of Human Genetics would like to recognize Dr. David Altshuler for his significant achievements in advancing human genetics research and collaboration among scientists in the field by honoring him as this year’s recipient of the ASHG Curt Stern Award.