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Hutchinson-Gilford progeria syndrome

Rare Disease Day: We’re Joined Together by This Common Thread

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Rare Disease Day Logo

Watch my Rare Disease Day song on video!

Tomorrow, the National Institutes of Health (NIH) will mark the seventh annual Rare Disease Day. As part of that gathering, I’d like to share this amateur video. What you’ll hear is an adaptation of a song I once heard sung at a folk festival, but I’ve changed the words. I’m now dedicating this to all of the good people whose lives have been touched by rare diseases.

While the spur-of-the-moment camerawork leaves something to be desired, I love the spirit of this video. It was shot at a gathering of the Moebius Syndrome Foundation in Philadelphia in July 2012. Moebius syndrome is a rare neurological condition, present from birth, that primarily affects the muscles controlling facial expression and eye movement. However, if you watch the video all the way to the end, or read the lyrics at the bottom of this post, I think you’ll find that this song strikes a chord for all such rare conditions.

In the United States, rare diseases are defined as conditions that affect fewer than 200,000 people. That doesn’t sound like a lot. However, when you consider that more than 6,500 conditions fall into this category, rare diseases are a challenge collectively faced by as many as 25 million Americans.

Close-up of Enzyme Linked to Rapid Aging Disease

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Pictures of 27 children with Progeria

Caption: Children with HGPS
Source: The Progeria Research Foundation

I’d like to tell you about a rare genetic disease that’s very close to my heart: Hutchinson-Gilford progeria syndrome, also called progeria. Though you may not recognize the name, you may well have seen pictures of children with this fatal premature aging disease. By 18-24 months, apparently healthy babies stop growing and begin to lose their hair. They develop wrinkled skin and joint problems and they suffer many other conditions of old age. Though their mental development is entirely normal, they often die of heart disease or stroke by age 12 or 13.

A decade ago, my research lab helped discover the cause of progeria: a mutation in the lamin-A gene [1]. Just a single letter substitution in the genetic code (C to T) creates a toxic version of the protein. The abnormal protein is missing a segment, and is no longer digestible by an enzyme called ZMPSTE24—essentially a molecular scissors. Without that final snip, the lamin-A protein causes molecular havoc.