The mission of the MGH Center for Human Genetic Research (CHGR) is to promote the application of the powerful tool set that genetics provides to investigate fundamental mechanisms involved in all areas of human disease. The central mandate of the CHGR is the promulgation of the Genetic Research Cycle, 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 characterizing the mechanisms by which the underlying DNA differences lead to phenotypic differences in disease using models driven by human genotype-phenotype relationships, and is completed when the knowledge gained delivers benefit back to the patient population in the forms of improved diagnosis, disease management and treatments. The CHGR aims to pursue this mission by emphasizing individual and collaborative faculty investigations in confluence with this genetic research cycle paradigm.

See video: Dr. James Gusella, Director of the CHGR, sits down with Proto Magazine
to discuss how this paradigm is moving forward. See full article.

In the News

Dr. David Altshuler Elected a Fellow
of the American Academy of Arts and Sciences:

Join us in congratulating David Altshuler, M.D., Ph.D., Professor of Genetics and Medicine in the CHGR and Department of Molecular Biology at the Massachustts General Hospital and Chief Academic Officer and Deputy Director of The Broad Institute, on his election to the American Academy of Arts and Sciences, one of the most prestigious honorary societies in the United States of America. Academy members represent a wide range of fields, and contribute their expertise to studies of national interest. David will join a host of luminaries, including more than 250 Nobel laureates and more than 60 Pulitzer Prize winners, when he is inducted at a ceremony on October 12, 2013, at the Academy's headquarters in Cambridge, Massachusetts.

Howard Hughes Medical Institute Selects CHGR Faculty Member
Dr. Vamsi Mootha for Prestigious Honor:

The Howard Hughes Medical Institute (HHMI) has recently announced that Vamsi Mootha, M.D. is among the 27
"top biomedical researchers" in the nation who will become HHMI investigators this fall. Selected for their scientific
excellence, all of the investigators will receive flexible financial support over the next five years so that they may move
their research forward in creative and new directions. The new group of HHMI investigators was selected from a highly
competitive pool of 1,155 applicants. Guided by the principle of "people, not projects", HHMI will provide each
investigator with support for basic biomedical research over the next five years, at which time appointments may be
renewed. The new investigators will begin their appointments in September 2013.

Center for Human Genetic Research Widely Recognized
in the 2013 Massachusetts General Hospital Celebration of Science:

The esteemed MGH Martin Prize for Clinical Research was awarded to Michael E. Talkowski, Ph.D. for his exciting
work in developing a new approach for detecting chromosomal abnormalities. In addition, the 2013 MGH Research
Scholars included three of our CHGR faculty members, Susan Slaugenhaupt, Ph.D., Sekar Kathiresan, M.D., and
Jose Florez, M.D., Ph.D.
, who will each receive $100,000 a year for five years for their promising work.
See the MGH Hotline issue for further highlights from the 2013 MGH Celebration of Science.

Breakthrough Findings Reported by CHGR Psychiatric & Neurodevelopmental Genetics Unit

PNGU faculty including Drs. Jordan Smoller, Phil Hyoun Lee, Roy Perlis, Shaun Purcell, and Susan Santangelo
were key members of a team that recently reported the largest genome-wide analysis of neuropsychiatric illness to
date. The study, "Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide
analysis," was published in The Lancet and examined genetic data from more than 60,000 people worldwide through
the collaboration of the Cross-Disorder Group of the Psychiatric Genomics Consortium. The study found that common
genetic variants are shared between five major psychiatric disorders: schizophrenia, bipolar disorder, major
depressive disorder, attention deficit-hyperactivity disorder, and autism spectrum disorders. The study also implicated
genes involved in calcium channel signaling as contributors to all five disorders, a finding that may provide biological
targets for new treatment strategies for these disorders.

Simches   Research   Building

The center occupies 52,000 square feet of laboratory, office and clinical research space in the new Simches Research Building on the main MGH campus. Our center is fully equipped for all aspects of genetic, cell biology and molecular biology research including Genomics/Genetics, DNA Sequencing, DNA Preparation, Cell Line Banking, Monoclonal Antibody Production, Confocal Microscopy, Cellular Assays and Chemical Screening and Clinical Genetics Core Facilities. The CHGR is surrounded by several other thematic centers with complementary capabilities and resources, including the Center for Regenerative Medicine, the Center for Integrative and Computational Biology, the Center for Systems Biology, and the Center for Photobiology, as well as the Department of Molecular Biology.

Center for Human Genetic Research
Massachusetts General Hospital • Simches Research Building • 185 Cambridge Street • Boston, MA • 02114 • USA
© 2013 Massachusetts General Hospital
Photo(s) by: Jenny Moloney Photography, Inc. — jennymoloney.com