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Researchers at Children's Hospital Boston have made a significant breakthrough on an extremely rare and fatal disease. Progeria is a genetic disorder that causes rapid and premature aging in children. The children die due to heart attacks and stroke, with average age of death is 13.
Progeria is caused by a single gene mutation, resulting in production of the protein progerin, which is an abnormal form of a protein that all of us have (called lamin A). Dr. Leslie Gordon, co-chair of the Progeria Clinical Trial at Children's, explained:
Progerin is an interesting protein because it disguises itself as normal lamin A. And so it's able to exist inside of cells adn it's able to hook onto nuclear membranes, where it functions — except it's not normal, it's abnormal. So instead of serving a normal function like lamin A, it actually destroys the cell or makes the cell dsyfunctional. And yes, it makes the cell age more rapidly and causes disease.
The clinical trial — which consisted of 28 children from 16 countries, representing nearly three-fourths of all progeria patients worldwide — found that a drug already in use for cancer treatment was effective in treating progeria.
Dr. Gordon's own son suffers from progeria, and it was his diagnosis when he was barely two years old that motivated Dr. Gordon and her husband to found the Progeria Research Foundation. WBUR's Carey Goldberg wrote about the discovery and commented:
This is one of many times now that I've seen a motivated family absolutely galvanize research on a rare disease and end up with incredible progress. It really is amazing how a family can make a difference.
- Carey Goldberg, co-host of WBUR's CommonHealth blog
- Dr. Leslie Gordon, co-founder and medical director of the Progeria Research Foundation , co-chair for the Progeria Clinical Drug Trial at Children’s Hospital Boston, assistant professor of pediatrics at Brown University and mother of a child with Progeria
- Experimental Drug Is First To Help Kids With Premature-Aging Disease
- CommonHealth: First Treatment Found For Rapid-Aging Disease in Children
- Children's Hospital Boston: First-Ever Treatment For Rare Childhood Aging Disease Shows Improvement In All Trial Participants (press release)
- Proceedings of the National Academy of Sciences: Clinical Trial Of A Farnesyltransferase Inhibitor In Children With Hutchinson-Gilford Progeria Syndrome (published paper)
This segment aired on September 25, 2012.
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