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The Genetic Research Cycle begins and ends with patients and their families. Description of heritable disease characteristics (phenotype) enables powerful molecular genetic strategies to identify the underlying DNA sequence variations (genotypes) that confer susceptibility to the disorder or modify its expression. The genes/proteins implicated are then characterized in the laboratory using model systems, from the test tube and cultured cells to genetically modified model organisms. Human genotype-phenotype relationships provide the basis for assessing the disease relevance of these findings, which together help to define the specific molecular mechanisms that produce the disease phenotype. Understanding of the fundamental disease mechanism and identification of modifier genes return benefit to patients through improved diagnostic capacity, better disease management and the development of rational treatments.
As this paradigm can apply to all areas of medicine, the Center for Human Genetic Research (CHGR) was established at the Massachusetts General Hospital as a multidisciplinary cross-departmental center with the central mission of facilitating the genetic research cycle. Housed in 60,000 square feet of wet lab, dry lab, office and clinic space in the new Richard B. Simches Research Center, the CHGR currently counts resident faculty from the Departments of Medicine, Molecular Biology, Neurology, Pediatrics and Psychiatry, along with the Harvard Medical School Preclinical Departments of Genetics and of Systems Biology , and affiliated faculty at the Jackson Laboratory .
The CHGR is also a major docking point at the MGH for the Harvard Medical School-Partners Healthcare Center for Genetics and Genomics, the Broad Institute of MIT and Harvard . |
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