Organized Research on Exceptionally Rare Diseases Is Possible
Hutchinson-Gilford progeria syndrome is a lethal condition caused by a mutation in a single gene. Children with the condition appear to age prematurely and experience stiffness of joints, growth failures, hair loss, wrinkled skin, and cardiovascular disease among other problems. Most affected children die by their early teens. In 1999, Dr. Leslie Gordon and Dr. Scott Berns, parents of a child diagnosed with the condition, founded the Progeria Research Foundation, which has identified 54 children in 30 countries who are living with the condition. As described by the foundation, the organization began by developing information for patients, families, and researchers; lobbied successfully for legislation mandating that NIH develop a research plan for progeria; organized with NIH the first workshop on the disease in 2001; formed a consortium to identify the causal gene, which occurred in 2002; established, also in 2002, a tissue bank and DNA repository to support research; collaborated in the first study of the natural history of the disease beginning in 2004; and raised funds to help initiate the first clinical trial of a potential treatment that began enrolling patients in 2007.
SOURCE: PRF, 2008.