Progeria

Progeria......

An aging disease.

Thirty years ago, virtually nothing was known about Hutchinson-Gilford syndrome; named after the Dr. Jonathan Hutchinson and Dr. Hastings Gilford who first described it in England, or more commonly known as progeria. Due to the rarity of the disease, little research was done until the late 1990s when a Massachusetts couple, Drs. Leslie Gordon and Scott Berns’ child Sam was diagnosed with Progeria in 1998. Like any parent would do when faced with such a case, they immediately began to collect as much information on this disease as possible. To their dismay, they discovered that practically nothing existed. There was no definitive test for such a disease, no funding available for research, and hardly anyone advocating for these children. So in early 1999, they gathered family, friends and colleagues and established The Progeria Research Foundation (PRF). Sam’s mother became PRF’s Medical Director, responsible for both medical and research efforts for children with Progeria and still holds this position today. In just a few short years, PRF has become a driving force for all the research related to the treatments and cure for all children diagnosed with Progeria worldwide (The Progeria). Now it is known that progeria is an extremely rare genetic condition (mutation in the gene called LMNA) of childhood characterized by dramatic, premature aging. About 1 in 4 million babies are born with this condition worldwide and most only live to be 13 years of age; although, many have been known to live into their late teens and early twenties (National). Even though it is genetic condition, it occurs as a new mutation sporadically and is not usually inherited (Genetics).

Hutchinson-Gilford progeria syndrome is considered an autosomal dominant condition, which means it only takes one copy of the altered gene in each cell can cause the disorder. In 2003, NHGRI researchers, together with colleagues at the Progeria Research Foundation, the...