Decades of NIH research help lead to the first FDA-approved treatment for progeria
The U.S. Food and Drug Administration (FDA) has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood, announced the National Institutes of Health (NIH). The treatment was made possible in part to work at the NIH over nearly two decades to identify and understand the function of the mutant gene and the protein progerin it encodes, with the goal of identifying new therapeutic drugs for the disorder.
In light of this approval, NIH Director and Senior Investigator at the National Human Genome Research Institute (NHGRI), Francis S. Collins, M.D., Ph.D., is available to discuss his lab’s research activities on progeria, including its involvement in the discovery of the gene responsible for the disease, the development of a mouse model, and the demonstration that this drug class could provide benefit.
Progeria, also known as Hutchinson-Gilford progeria syndrome, is a rare, multisystemic disease that causes premature aging and premature death in children. Progeria is caused by a genetic mutation in the LMNA (“lamin A”) gene, which helps maintain the normal structure and function of a cell’s nucleus. About 400 children worldwide have been diagnosed with progeria.
The National Human Genome Research Institute (NHGRI) is one of the 27 institutes and centers at the NIH, an agency of the Department of Health and Human Services. The NHGRI Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases.
