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Genetic Linkage

Experimental Drug Extends Survival in Progeria

(Progeria Research Foundation)
A report from a clinical trial for a drug to treat the rapid-aging disorder progeria, published in this week’s Journal of the American Medical Association, offers hope for families with the ultra-rare genetic condition.

Old Before Their Time

Children with Hutchinson-Gilford Progeria Syndrome have a distinctive appearance, seemingly hurtling towards old age. After an outwardly normal infancy, weight gain slows, hair thins, joints stiffen, and bones weaken. The gums remain smooth, bereft of erupting teeth. Skin wrinkles as the child’s chubbiness melts away too quickly, and a cherubic toddler begins to resemble a delicate bird.

Beneath the child’s toughening skin, blood vessels stiffen with premature atherosclerosis, fat pockets shrink, and connective tissue hardens. Inside cells, chromosome tips – telomeres – whittle down at a frightening rate, marking time too quickly. But some organs remain healthy, and intellect is spared. The end comes, typically during adolescence, usually from heart failure. Read More 
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From Rapid-Aging Disease to Common Heart Disease

Dr. Francis Collins, Director of the NIH, began pursuing a treatment for progeria, the rapid-aging disease, early in his career.
Last week I looked at how Dr. Francis Collins became involved in the quest to discover the genetic defect that causes the rapid-aging disorder Hutchinson-Gilford progeria syndrome. Preliminary results of a possible drug therapy -- one originally developed to treat childhood brain cancer -- were about to be published. Dr. Collins isn’t on that paper, perhaps sidetracked with things like running the NIH.

We All Have Progerin
Between the progeria gene discovery in 2003 and the recent repurposed drug news lies perhaps the most important paper of all: a 2010 report comparing the arteries of two children with progeria who’d died of heart attacks – a girl just under age 10, and a boy aged 14 – to blood vessels from 29 people.  Read More 
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Progress for Progeria

Megan and Devin have the rapid-aging disorder progeria. (Photo courtesy of the Progeria Research Foundation)
Surely progeria is among the saddest of genetic diseases, and one of the rarest. The recent finding that a shelved cancer drug (lonafarnib) may provide a treatment is good news – for all of us.

An infant with progeria looks normal, but when he or she is between the ages of one and two, parents  Read More 
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