Scientists Discover Narcolepsy Gene
Sept. 29, 2008— -- As medical disorders go, narcolepsy has the paradox of being popularly portrayed in comedy, but being a rare, devastating and poorly understood condition in real life.
Only one in 2,000 people have the disease, which means doctors can rarely get enough patients or funding to really study narcolepsy and make advances to treat it. But Sunday, in the journal Nature Genetics, researchers reported that they discovered a genetic variant which increases a person's susceptibility to narcolepsy by 79 percent.
Dr. Emmanuel Mignot, a co-author of the study, said the gene discovery is not a breakthrough for a cure -- only one in 300 people with the variant actually have narcolepsy -- but a big step toward understanding how this extraordinarily rare disease works.
"It's definitely a very exciting finding ... and there is more to come," said Mignot, who is professor of Psychiatry and Behavioral Sciences and director of the Center for Narcolepsy at Stanford University.
For some narcolepsy patients, any news, no matter how buried or complicated to understand, is big news.
After Sharon Smith lost her career and her independence to narcolepsy in 1989, she said she kept an eye on any narcolepsy news.
"It would be wonderful if they could predict, even a percentage of people destined to have narcolepsy," said Smith, president of the Board of Trustees at the Narcolepsy Network Inc in North Kingstown, R.I.
"If we can't be cured, the next best thing is to be certain that future generations don't have to suffer," Smith said.
