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Leslie Gordon has scrutinized the medical charts of nearly every child in the world known to have progeria, a genetic disorder that causes children to rapidly age.

These children have the wrinkled skin, swollen joints and hardened arteries of 80-year-olds. They almost always die of heart attack, at an average age of 13. There are only about 40 known cases in the world.

One of them is Dr. Gordon's 11-year-old son, Sampson Berns.

"For me, it's never fast enough," said Dr. Gordon of her research efforts, speaking from her office at Tufts University's school of medicine in Boston.

Her newest study, published today in The New England Journal of Medicine and co-authored by a large team of genetic specialists, has carefully measured the onset of progeria on the frail bodies of 15 children, representing nearly half of the world's known cases.

Hope of finding a cure for the disease, known medically as Hutchinson-Gilford progeria, is what drives Dr. Gordon. But scientists also believe studying the disease may unlock clues to natural aging. Insights into heart disease also hold promise, because almost every child with progeria will die from it.

"You almost have a Rosetta stone to see what is going on in a cell to accelerate the aging process," says Bruce Korf, an expert in rare genetic disorders and University of Alabama professor who authored an essay published along with the study.

"If you can understand that for these children, then maybe that will reveal mechanisms that apply to everybody else as well."

Progeria, the result of gene mutation that happens in one in every four million to eight million births, highlights an irony that now is playing out in the field of genetics.

As the genetic basis for a growing number of unusual disorders are discovered, thanks to advances in DNA technology and mapping of the human genome, scientists believe they may unlock clues into conditions that affect vast populations.

But to study these unique cases, you have to find them, and that's been half of Dr. Gordon's battle since Sampson was diagnosed in 1998.

At that time, only a few doctors in the United States specialized in progeria, and it was almost impossible for families affected by the disease to find each other as well as information.

To fill the void, Dr. Gordon, along with her pediatrician husband, Scott Berns, and sister, Audrey Gordon, founded the Progeria Research Foundation in 1999. Since then, it has become a centre of information and support for families and doctors. They set up a cell and tissue bank so researchers have enough samples to study. They also collected medical records from patients around the world, including a handful from Canada.

Ashley Hegi, a 15-year-old Grade 9 student living in Coalhurst, Alta., and her mother, Lori Roger, have candidly described some of the challenges of living with progeria on a personal website and in a documentary.

When she was 14, Ashley posted a YouTube video where she talked about her favourite things, such as riding her quad bike, camping and being a big sister. She also had a message for other children with progeria.

"When somebody stares at you, don't let it bother you, because maybe they don't know about progeria," Ashley said, seated on a couch.

"You can tell those people about progeria. Maybe they'll understand. And if they don't, it's okay. You're one of a kind. You know the truth."

The progeria gene was discovered in 2003, giving researchers a major boost. Scientists now know the disease stems from a mutation in the gene called lamin A, which produces a protein that helps hold the nucleus of a cell together. Researchers believe that buildup of the protein appears to cause progeria's process of premature aging, and perhaps natural aging as well.

Dr. Gordon has helped launch the first clinical trial of a potential treatment for progeria at Children's Hospital Boston. For the past eight months, 28 children from 16 countries, including one boy from Ontario, have come to Boston where they received a new drug and are being monitored to determine its effects. The results won't be known for at least another year.

But researchers say they must continue to increase their understanding of progeria so they can prove new treatments are working.

"We want to become experts," said William Gahl, co-author of the study and director of the National Human Genome Research Institute in Maryland, where the New England study took place.

"If we don't know what the natural history is, then we don't know if the treatment had any effect on these individuals. So this is critical."

To help do that, researchers carefully catalogued how the disease had progressed in 15 progeria patients, ages 1 to 17. Since the year-long testing process ended in May, 2006, two have died.

For Dr. Gordon, these findings are a crucial step in a continuing effort to prevent the loss of any more children.

"I think of the kids who are with us now, I think of the kids who we've lost," Dr. Gordon said. "They are most definitely my inspiration every day."