In their study, to be released online next week in the journal Nature, 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, M.D., Ph.D., 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.
W. Ted Brown, M.D., Ph.D., co-author of the study and chairman of the Department of Human Genetics at the Institute for Basic Research, said, "Many people consider progeria to be the most dramatic example of a genetic disease that clearly res
Contact: Geoff Spencer
NIH/National Human Genome Research Institute