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progeria

Progeria International Scientific Workshop

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Dr. Collins playing a guitar with children looking on.

I enjoyed presenting some of my lab’s work at the Progeria Research Foundation’s 9th International Scientific Workshop and later meeting with some of the kids in attendance. Here, I got to sing a song for 17-year-old Meghan (left) from the United States and 2-year-old Alptug (middle) from Turkey. The workshop was held in Cambridge, MA from September 20-22, 2018. Credit: Carol Moroney.


In Memory of Sam Berns

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Man, boy, and a puppet

Sam Berns (center) with Cookie Monster and me at TEDMED 2012.

This weekend, in a heartbreaking phone call from his parents, I learned of the death of Sam Berns, a courageous young man with Hutchinson-Gilford Progeria Syndrome. Sam may have only lived 17 years, but in his short life he taught the rest of us a lot about how to live.

Sam’s parents, Scott Berns and Leslie Gordon, both physicians, introduced me to Sam more than a decade ago. At that time, no one knew the cause of this extremely rare disease that causes children to age at a dramatically accelerated pace, leading to death from heart attack or stroke at the average age of 13.

Initially, I sought to provide them with some advice about how to encourage more research on progeria, but before long my own research lab began working on the problem—and 10 years ago, working with Leslie, we found the cause: a single letter misspelling of the DNA code in a highly vulnerable place in the genome. Almost all children with progeria had that same exact glitch.


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.