A Philadelphia meeting talks treatment for a rare disease

Francis Collins, of the National Institutes of Health, sang and talked at the the Moebius Syndrome Conference.
Francis Collins, of the National Institutes of Health, sang and talked at the the Moebius Syndrome Conference.
Posted: July 15, 2012

Five years ago, a passionate mother-turned-activist chatted up her tablemate at a conference for people with genetic diseases. Little did Vicki McCarrell, now of central Missouri, know that she was pitching new research to Francis Collins, director of the groundbreaking Human Genome Project and the future head of the National Institutes of Health.

On Friday, at McCarrell's invitation, Collins was at the Sheraton Philadelphia serenading a room full of people affected by Moebius syndrome. The rare genetic condition causes facial paralysis and the inability to turn eyes left or right in their sockets.

"It's your dedication that's our inspiration," sang the NIH chief, while strumming a guitar decorated with a double-helix decal.

The song moved this often-overlooked group to stand and sing along. This weekend, 114 people with Moebius and 300 others came here to support one another, hear a brilliant researcher croon, and learn about innovation.

The presence of Collins, 62, at the Moebius Syndrome Conference points to a growing national interest in rare diseases and the potential breakthroughs they can bring not only for those conditions but for more common ones too.

"Although they are individually rare," Collins said, "if you put them all together . . . about 26 million people in the U.S. are affected by rare diseases." Research on rare conditions accounts for more than 11 percent of the NIH budget, with $3.5 billion set aside. But there are around 7,000 rare diseases.

That means that for all the billions spent and guitars strummed, little progress has come on Moebius, which was first described in the 1880s.

Collins is looking at Moebius in his own lab, inspired by the experience of McCarrell's son Sean. But his lab has analyzed the data of only four Moebius patients, and there is still no known cause, much less a treatment.

The condition is present at birth. The facial paralysis and lack of lateral vision movement are linked to the sixth and seventh cranial nerves, but researchers do not know why those nerves fail to develop. Collins hopes to pinpoint the genetic abnormality or environmental factors that hinder their development.

Collins called research into rare diseases the "entryway into understanding profoundly important issues and principles that will have implications far beyond that individual rare disease."

He pointed to his own work on progeria, an exceedingly rare condition that causes children to age rapidly and die of strokes and heart attacks as teenagers. His research linked a mutant protein, progerin, to the breakdown of the bodies of non-affected elderly individuals.

Yet Collins called the current medical research climate "paradoxical." While new tools and technologies are allowing "exponential" advances and discoveries, he said, "support for biomedical research through NIH has never been under as much stress as it is now."

The NIH budget has hovered around $30 billion since 2003. Collins said that with inflation, that freeze has meant a 20 percent decline in the NIH's purchasing power. "It is troubling indeed that we cannot say with complete confidence that we are doing everything we could," he said.

The main innovations for Moebius have been cosmetic, such as a transplant from a thigh muscle to the cheek that can allow those with facial paralysis to smile. People with Moebius must learn swallowing, blinking, and eating through therapy.

Abby Simmons, 17, from Elk Township, N.J. opted not to undergo the surgery because "it's not a real smile," she said. People with the surgery don't smile reflexively; they have to do so intentionally.

When Simmons was born, her condition shocked her family. During her pregnancy, "they tested me for everything, and everything was fine," recalled her mother, Mary Anne. "But with mother's intuition, I knew something was wrong." There are no prenatal tests for the disorder.

It took the family three years to get a diagnosis. "All of the doctors had never even heard of it," Simmons said. Moebius is estimated to affect one of every two million to 20 million people.

The isolating experience and lack of answers are part of what inspired McCarrell to start the Moebius Syndrome Foundation, the group behind this weekend's conference. When her son was found to have Moebius in 1990, she had to scour the country for leads to other people with Moebius.

Now the group has more than 2,000 members.

Grassroots campaigns for rare diseases have grown with modern connectivity. "The Internet has increased the ability of patients to join together," said Stephen Groft, director of the Office of Rare Diseases Research at NIH. "The patient groups can be the catalyst for individual research projects and responsible for developing a research agenda."

Allyn Gaestel can be reached at AGaestel@philly.com.

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