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A Paradigm for Disease Research

The Cycle is a paradigm for disease research that begins by comparing human phenotypes and genetic variation to identify genes of importance in human disease, then moves on to characterize the mechanisms by which the underlying DNA differences lead to disease, and is completed when the knowledge gained delivers benefit back to patients in the forms of improved diagnosis, disease management, and treatments.

Michael Talkowski

Director, Center for Genomic Medicine

A Message from the Director

In the CGM, our investigators include leaders in virtually all aspects of genomics in medicine. We envision our activities as existing within a ‘genomic medicine cycle’ where we drive efforts to discover, target, and cure the genetic cause of disease. This cycle includes the discovery of genetic variants, analyses of their impact on human traits and disease, molecular dissection of the biological changes that they cause, and the direct targeting of biological changes with precision therapeutics. Over the next five years, the CGM faculty will continue to lead many of the largest international consortia in the field to expand catalogs of human variation across diverse global populations, then leverage these maps, sophisticated analytic tools, and massive human datasets to define how genetic changes contribute to rare and common diseases. We also have extensive research programs seeking to understand the mechanisms that govern the relationship between genetic variants and biological functions, and our faculty are actively developing therapies to treat genetic disease. These efforts will collectively catalyze the continued integration of genomics into routine medical care as our community seeks to repeatedly traverse this ‘genomic medicine cycle’. The diversity of expertise across our faculty, and their leadership roles in major international initiatives, uniquely position the CGM to fulfill its mission to implement genomic medicine into human health at MGH and beyond. If you share our passion for this mission and would like to contribute to our community, please see our open training and staff positions.