American Society of Human Genetics' Meeting Showcases NHGRI Research

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


American Society of Human Genetics' Meeting Showcases NHGRI Research

American Society of Human Genetics 57th Annual Meeting - San Diego, California October 23-27, 2007

Investigators from the National Human Genome Research Institute (NHGRI) will figure prominently at the 57th annual meeting of the American Society of Human Genetics (ASHG) taking place Oct. 23-27, 2007 in San Diego.

ASHG is the primary professional membership organization for human geneticists in the Americas, representing more than 8,000 researchers, clinicians, genetic counselors and nurses. This year's meeting will include 286 platform presentations, 2,228 posters, 14 invited speakers and other special symposia.

The NHGRI Division of Intramural Research will be represented at the meeting in diverse presentations by researchers from each of its seven branches. Additional NHGRI presenters from the Office of the Director also will be on hand. More than 30 NHGRI researchers are first authors of research being presented, with an additional 35 first authors from other institutes at the National Institutes of Health (NIH).

"The ASHG annual meeting has consistently been an outstanding venue for NHGRI intramural researchers to present their latest genetics and genomic studies to highly receptive colleagues," said NHGRI Scientific Director Eric Green, M.D., Ph.D.

NHGRI Director Francis S. Collins, M.D., Ph.D., will moderate the education session, "Genome-Wide Association Studies in the Era of Open Data Access and Collaboration," at 8 a.m., Wednesday, Oct. 24. He also will participate in a press briefing, "Successful Treatment of Genetic Disorders," with NHGRI Clinical Director William A. Gahl, M.D., Ph.D., and Howard Hughes Medical Institute/NIH Research Scholar Brian Capell at 4 p.m., Friday, Oct. 26. The NHGRI researchers will discuss several promising new treatments for genetic disorders being tested in mouse models of human genetic disease or in human volunteers.

Dr. Collins and Capell will report on an experimental therapy that prevents cardiovascular disease in a mouse model of Hutchinson-Gilford progeria syndrome (HGPS). HGPS is a dramatic form of premature aging that, in humans, usually results in death from heart attack or stroke around age 13. In their studies, the NHGRI researchers found administration of tipifarnib, a farnesyltransferase inhibitor already being tested as a cancer drug in humans, prevented cardiovascular symptoms in mice that were genetically engineered to harbor the HGPS mutation.

Dr. Gahl will discuss his research into a rare genetic kidney disorder, called nephropathic cystinosis, that affects lysosomal storage. The drug cysteamine, or Cystagon, is approved by the Federal Drug Administration for cystinosis patients awaiting kidney transplants, and long-term use has been shown to reduced morbidity and mortality. Based on the drug's success and recent research findings, Dr. Gahl's team recommends that all cystinosis patients receive oral cysteamine therapy. In addition, Dr. Gahl and his colleagues want to strengthen efforts to diagnose and treat cystinosis as early in life as possible, suggesting screening of newborn infants as one possible tool.

Additional NHGRI highlights from the ASHG annual meeting include:

NHGRI Abstracts for the NHGRI research being presented at the ASHG annual meeting.

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Last Reviewed: February 26, 2012