Progeria, also known as Hutchinson-Gilford progeria syndrome, is a rare, progressive genetic disorder that causes children to rapidly age. Children with progeria appear healthy at birth, but during the first years of their lives, symptoms like slowed growth, hair loss, and loss of fat tissue begin to appear. The average life expectancy for a child with progeria is about 15 years.
In 2003, Francis Collins, MD, PhD, former NIH Director, and Senior Investigator at the National Human Genome Research Institute (NHGRI), and his colleagues published a groundbreaking paper[1] using samples found in the NIA Aging Cell Repository at Coriell, sponsored by the National Institute on Aging (NIA). Their research discovered the genetic cause of progeria, a point mutation of the Lamin A gene, which helps maintain the normal structure and function of a cell’s nucleus. This landmark discovery has enabled clinicians and researchers to better diagnose progeria and to better understand the biology of the disease.
In November of 2020, a landmark treatment for progeria, lonafarnib, received FDA approval. This drug could not have been developed without the research conducted by Dr. Collins and his team. Progeria now joins fewer than 5% of the >7,000 known rare diseases with an FDA-approved treatment. As research continues, gene editing and RNA therapy studies are being utilized by researchers, as they strive to support advancing human clinical trials for better treatments for this terrible disease.
Since the founding of this biobank in 1974, the NIA Aging Cell Repository at Coriell has been home to some of the world's most important cell lines, many of which are foundational to the study of disease like Alzheimer disease, parkinsonism, and progeria. Coriell is also home to several other NIH biobanks, distributing thousands of samples every year, and offering world-class research and biobanking services to scientists around the globe.
To learn more about our biobank collections, visit coriell.org/1/Browse/Biobanks.
[1] Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003 May 15;423(6937):293-8. doi: 10.1038/nature01629. Epub 2003 Apr 25. PMID: 12714972; PMCID: PMC10540076.
