The Lady Davis Institute & The McGill University-Génome Québec Innovation Centre


The McGill Distinguished Lectureship in Human Genetics:

Human Genomic Variation and the Inherited Basis of Common Disease

David Altshuler MD, PhD

Professor of Genetics and of Medicine, Harvard Medical School and Massachusetts General Hospital

Deputy Director and Chief Academic Officer, Broad Institute of Harvard and MIT






April 3, 2012, 4:00pm

Charles Martin Amphitheatre, McIntyre Medical Sciences Building

3655 Promenade Sir William Osler, Montreal, Quebec

Despite great progress in medical science, we have limited knowledge of the molecular causes of disease in human populations; this ignorance is one of the gating factors in efforts to design rationale approaches to prevent and treat disease. Genetic mapping offers an approach to study disease that is unbiased by prior hypotheses about disease mechanisms, and that provides in vivo human validation of relevance. We have worked to make possible genetic mapping of common diseases by developing maps of human sequence variation (the SNP Consortium HapMap, and 1000 Genomes Projects), and by developing technologies and analytical methods to enable genome-wide association studies. We have contributed to the localization of over 50 genomic loci contributing to risk of type 2 diabetes, and others associated with hyperlipidemia, myocardial infarction and other diseases. Going forward we are pursuing two main approaches: (a) nextgeneration sequencing studies of >15,000 people with diabetes and related clinical traits, systematically testing the role of rare mutations, and (b) developing methods to elucidate the functions of genes and mutations in the context of human physiology and pathophysiology.


March 13, 2012