NIH research leads to first FDA-approved treatment for progeria

Alyssa Jones November 20, 2020 PRESS CONTACT

Media Availability

NIH Director Francis S. Collins, M.D., Ph.D., available to discuss this major advance for rare, fatal pediatric disease.

What

The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood. The treatment was made possible thanks in part to work at the National Institutes of Health over nearly two decades to identify and understand the function of the mutant gene and the protein it encodes (called progerin) with the goal of identifying new therapeutic drugs for the disorder.

In light of today’s 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.

Who

To speak with Dr. Collins about this breakthrough, please contact the NHGRI press team at nhgripressoffice@mail.nih.gov.

About NHGRI and NIH

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. Additional information about NHGRI can be found at: www.genome.gov.

The National Institutes of Health (NIH) is the nation's medical research agency, includes 27 institutes and centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical and translational medical research, and is investigating the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.