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Yale Neurologists Participate in Breakthrough Multiple Sclerosis DNA Study

August 10, 2011

In a landmark study published in the August 11 issue of Nature, scientists across the world gave an unprecedented glimpse into the genetic underpinnings of Multiple Sclerosis. Dr. David Hafler, Chairman of the Department of Neurology, was an author on the study, which received international acclaim and attention. The study was featured by CBS News in the following article:
Breakthrough Multiple Sclerosis DNA Study Could Lead to New Treatments
(CBS) August 10, 2011

New drugs for multiple sclerosis could be on the way, now that a landmark study has given scientists an unprecedented glimpse into the disease's genetic underpinnings. In the largest gene study of multiple sclerosis ever, scientists compared DNA from nearly 10,000 people with multiple MS, with DNA from more than 17,000 unrelated, healthy individuals. The scientist successfully confirmed 23 previously known genetic links and identified 29 new ones, in addition to five strongly suspected genes that contribute to MS.

"We have moved from three [genes linked] in 2007 to 57 now," study co-author Dr. Alastair Compston, professor of neurology at the University of Cambridge, U.K., told WebMD.

Many of these genes play pivotal roles in immune system function, according to Compston. Specifically, the genes are linked to T-cells, which mount the body's immune response, and interleukins, which help different types of immune cells interact with one another.

"They tell a remarkably coherent story because 80 percent of them are all genes which drive the body's immune response." Compston said. What does that mean for MS? Experts had previously debated whether MS is a degenerative disease that causes immune system inflammation but this research suggests it's the other way around, according to Compston - and that can guide future treatments.

"It is now clear that multiple sclerosis is primarily an immunological disease," Compston told Reuters. "This is the way to nail this disease and get on top of it."

The study was published in the August 11 issue of Nature. Another study, published in the journal PLoS Genetics, found that many genes linked to MS are also found in other autoimmune diseases, like Crohn's disease, psoriasis, lupus, and Type 1 diabetes. That means if doctors can successfully treat one of these disease, they might uncover how to treat another.

"These findings will help focus future research to find new ways to intervene in the course of MS and other diseases," Dr. David Hafler, professor of neurology and immunobiology at Yale University, and an author on both papers, said in a written statement.

About 400,000 Americans have MS, while another 200 diagnosed each week, according to the National Multiple Sclerosis Society. Most people are diagnosed with the disease between ages 20 and 50, although it can also appear in young children and the elderly. The disease attacks the central nervous system, causing symptoms that include fatigue, memory loss, and problems with balance and muscle coordination.


The study is available in the August 11 issue of Nature (Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis: Nature, Volume: 476 Pages: 214–219. August 11, 2011).

Submitted by Liz Pantani on May 21, 2013