On April 16, 2003, the Progeria Research Foundation and National Institutes of Health announced the discovery of the gene responsible for this disease. A single, simple change from cytosine (C) to thymine (T) within the Lamin A gene was detected in 18 of 20 children studied who suffered from classic progeria.

It is expected that further research into the effects of this genetic mutation will help shed light not only on this disease, but on human aging itself.