A team led by the National Human Genome Research Institute announced the discovery of the genetic basis of a disorder that causes the most dramatic form of premature aging, a finding that promises to shed new light on the rare disease, as well as on normal human aging.

In their study, researchers identified the genetic mutations responsible for Hutchinson-Gilford progeria syndrome (HGPS), commonly referred to as progeria. Derived from the Greek word for old age, "geras," progeria is estimated to affect 1 in 8 million newborns worldwide. There currently are no diagnostic tests or treatments for the progressive, fatal disorder.

Francis S. Collins, director of the National Human Genome Research Institute (NHGRI) and leader of the research team, said, "This genetic discovery represents the first piece in solving the tragic puzzle of progeria. Without such information, we in the medical community were at loss about where to focus our efforts to help these children and their families. Now, we finally know where to begin."

Dr. Collins added, "The implications of our work may extend far beyond progeria -- to each and every human being. What we learn about the molecular basis of this model of premature aging may provide us with a better understanding of what occurs in the body as we all grow older."

In addition to NHGRI, the multi-institution research team included scientists from the Progeria Research Foundation, the New York State Institute for Basic Research in Developmental Disabilities in Staten Island, N.Y., the University of Michigan in Ann Arbor and Brown University in Providence, R.I.

Children with progeria usually appear normal at birth. However, within a year, their growth rate slows and their appearance begins to change. Affected children typically become bald with aged-looking skin and pinched noses. They often suffer from symptoms typically seen in elderly people, especially severe cardiovascular disease. Death occurs on average at age 13, usually from heart attack or stroke.

In 2001, PRF co-hosted a workshop with various institutes and centers of the National Institutes of Health (NIH), including the National Institute on Aging and the Office of Rare Diseases. The workshop brought together leading scientists from around the world to identify promising areas of research in progeria. This partnership eventually led to funding for progeria research and the formation of the PRF Genetics Consortium, a group of 20 scientists whose common goal is to find the genetic cause of progeria and to develop ways of treating the disease.