On Progeria

Research into conditions that are or appear to be accelerated aging - Progeria or Werner syndrome - is a field that has garnered great interest in the past few years. Much of this can be credited to the actions of the founders of the Progeria Research Foundation. A recent reprint from the Life Extension Foundation news gives a fair overview:

Dr. Leslie Gordon of Tufts University School of Medicine was ecstatic the day she heard researchers had found the gene mutation that causes progeria - for an instant.

Then she thought: But that's not a cure.

And it's a cure she's after.

Gordon and her pediatrician husband, Scott Berns, who are the founders and force behind the Massachusetts-based Progeria Research Foundation, have an extra motivation for researching the disease. Their son Sampson, 7, was born with it.

The two started the foundation in 1998 to catalyze the search for a treatment.

"There was nothing going on," she said. Although the disease had long been considered a model for studying aging, no one was doing it because it was so rare, and there was no central repository for blood and tissue samples to facilitate research.

In the century since it was first described, fewer than 100 papers had been written on the subject, she said. And the National Institutes of Health, a prime driver of basic medical research, had no money invested in it.

The discovery of the gene in April 2003 changed that.

"I knew it would make hundreds of doors fly open," said Gordon, who helped recruit and fund the scientists who found the gene.

After discovering the genetic roots of progeria, modern bioinformatics made it the work of less than a year to understand how the condition operates - and to show that it is indeed an acceleration of the aging process. Further research into understanding and curing progeria - and related conditions like Werner syndrome - should also result in important insights for future healthy life extension medicine.