Brian Capell, a New York University medical student participating in the Howard Hughes Medical Institute/National Institutes of Health Research Scholars Program and the first author of the study, reported the findings in the August 29, 2005, issue of the Proceedings of the National Academy of Sciences. The HHMI-NIH Research Scholars Program gives outstanding medical and dental students the opportunity to conduct biomedical research under the direct mentorship of senior NIH research scientists.
Although HGPS is a rare disease that affects only one child in 4 million, the disease has received wide publicity due to its striking nature. Children born with HGPS appear normal, but they experience growth retardation and show symptoms of accelerated aging -- namely hair loss, skin wrinkling, and fat loss -- around the first year of age. Accelerated cardiovascular disease also ensues, which typically causes death around age 12.
In 2003, researchers in Francis Collins's lab at the National Human Genome Research Institute discovered that mutations in the lamin A (LMNA) gene cause HGPS. The discovery has prompted renewed interest among researchers to study this rare syndrome.
When Capell entered Collins's lab in July 2004, he immediately set his sights on understanding the molecular basis of HGPS. "What really interested me in this research in the first place were the potential links to aging and atherosclerotic disease," says Capell. Indeed, understanding HGPS at the molecular level may illuminate general processes
Contact: Jennifer Donovan
Howard Hughes Medical Institute