CHOP Contributes to Large International MS Gene Study

Published on in CHOP News

August 10, 2011 — The Center for Applied Genomics at CHOP contributed important pediatric data to the largest-ever genetic study of multiple sclerosis (MS), published on August 11 in the journal Nature.

Immune dysfunction plays a central role in MS

Bringing together scientists from 23 research groups in 15 countries, the International MS Genetics Consortium described the genetic architecture of MS and reinforced the central role of immune dysfunction in the disease. The genome-wide association study (GWAS) of samples from nearly 9,800 MS patients and 17,000 healthy control subjects replicated previous genetic findings and identified 29 novel gene variants linked to increased risk of the debilitating neurological disorder.

MS, which occurs in approximately 400,000 people in the U.S., is a common progressive disease of the central nervous system. Usually diagnosed in adulthood, MS attacks myelin, the protective covering that coats nerve fibers, and may cause fatigue, numbness, pain, and difficulties in walking and balance, among other symptoms. 

CHOP provided data for study, aids researchers worldwide with pediatric biobank of DNA samples

CHOP’s Center for Applied Genomics, directed by Hakon Hakonarson, MD, PhD, a study co-author, supplied GWAS data from more than 6,000 samples, which allowed the research consortium to better identify which gene variants were more frequent among MS patients.

“In addition to our own studies, the pediatric biobank we have built at the Center for Applied Genomics over the past few years, which includes over 100,000 DNA samples, is a major resource for genetic researchers worldwide,” said Hakonarson. He added, “Our biobank has contributed in a major way to various international research programs aiming at resolving the genetic causes of some of the most common and serious diseases that affect both children and adults.”  

About the study co-authors

Co-leading the study, entitled “Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis,” were U.K. researchers Alastair Compston, MBBS, PhD, of the University of Cambridge, and Peter Donnelly, FRS, DPhil, from the Wellcome Trust Centre for Human Genetics at the University of Oxford.

The research leaders said the study has now established that MS is primarily an immunological disease. Many of the susceptibility genes identified play roles in immune function, particularly in the function of immune cells called T-helper cells, as well as in interleukins, which are signaling molecules. Some of the genes identified have previously been associated with other autoimmune diseases, such as Crohn’s disease and type 1 diabetes. These findings shed light on the underlying causes and biology of MS, with the hope that increased understanding of how the disease occurs may lead to more effective treatments for MS.

For more information

For more details, read the joint press release from Oxford and Cambridge.


John Ascenzi, Children's Hospital of Philadelphia, 267-426-6055,