Oct. 22, 2007 - KGO - Multiple sclerosis or MS is a frustrating disease to treat. There are drugs to help symptoms, but none that targets the cause.
But a new genetic discovery may be the biggest step forward in decades to help researchers determine the cause of ms and to develop treatments for it.
Janek Pawlik adores spending time with his son, but he isn't as care-free as most dads.
"I can't do things other fathers can do, like I don't give him piggybacks," said multiple sclerosis patient Janek Pawlik.
Janek has multiple sclerosis. His immune system attacks his nervous system and makes simple things -- like walking -- difficult.
"It changes how you perceive yourself and the things you think you can have. You get scared of living and scared of dying at the same time," said Pawlik.
MS Affects 300,000 Americans. Researchers have spent decades trying to pinpoint what causes it.
"We've all been very frustrated by how slow a process it's been," said Professor of human genetics Jonathan Haines Ph.D.
For the first time in 30 years, researchers have discovered another gene involved in MS. It's called IL7R, and people with a variation of this gene have a 30-percent increase risk of developing MS.
"It's very exciting to us to actually make this breakthrough," said Haines.
Here's how they did it: Researchers took blood samples from thousands of patients with and without MS.
Robots separated out the DNA and made hundreds of copies of it. Computer software helped researchers determine which groups had which genes.
"What it does is open up a whole new avenue for research to try to identify new targets," said Haines.
Patients could be tested for the gene and put on treatments earlier. Also - therapies could eventually be designed to target the genetic defect.
Janek's excited about the research.
"It may not benefit me ever, but maybe my son or the next generation," said Pawlik.
A discovery that could eventually lead to better understanding of this debilitating disease.
Testing for the gene could be a simple blood or saliva test. This is just the second gene ever discovered that contributes to MS. While researchers say this discovery proves ms is indeed a genetic disease, they believe environmental factors also play a significant role.Submitted 10/23/2007 11:43:49 PM