Research suggests that MS occurs in individuals and in families whose genes make them susceptible to developing the disease, and that many genes contribute to MS susceptibility. In addition, individuals who are genetically at risk must encounter some other triggering factor in the environment to actually develop MS. Pinpointing the exact location of these “MS genes” could help determine who is at risk for developing the disease, and may provide clues to its cause, prevention and better treatment.
Genetics is an important research issue in MS because
- it will provide key information regarding the cause of the disease and therefore how to prevent it
- genes that are associated with MS may be targets for the development of new therapies
- if we could identify those people who have a strong genetic predisposition to the disease, we might be able to intervene at its earliest stages or before it appears.
The International MS Genetics Consortium
A crucial aspect of this research is collaboration. With funding from a National MS Society Collaborative MS Research Center Award, MS geneticists from around the world have joined to create the International MS Genetics Consortium, whose work has already sped the search for MS genes exponentially. In 2007 the Consortium published a groundbreaking initial GWAS that clearly identified two new genes (representing only the 2nd and 3rd susceptibility genes identified overall at that time) that predispose people to developing MS.
That work demonstrated that the GWAS approach could successfully identify important MS genes, but also made it apparent that much larger studies would be necessary to identify most of the remaining common MS susceptibility genes. The Consortium expanded to include more groups from more countries, forming the basis for its grant from The Wellcome Trust to perform such a study. They then identified 29 new genetic variants associated with MS, and confirmed 23 others previously associated with the disease, verifying a major role for the immune system in the development of MS. (Read more here).
The team then identified 48 new genetic variants associated with MS, bringing the total number of genetic variants that may influence susceptibility to MS to 110. The study involved nearly 30,000 people with MS and more than 50,000 controls without MS, and was funded by more than 40 agencies and foundations, including the Wellcome Trust, the National Institutes of Health, and the National MS Society. (Read more here).
Genes identified in this study are being confirmed and expanded in an independent, second large-scale set of cases with a research grant from the National MS Society.
Read about other studies funded by the National MS Society:
- Studying human cells isolated in the laboratory, researchers reveal a novel interaction between two genes that influence susceptibility to developing MS, certain environmental factors, and a chemical process (called N-glycosylation) that modifies the structure of molecules, which together may contribute to our understanding of how complex interactions lead to the development of MS. Read more here.
- Fast Forward, LLC, a nonprofit subsidiary of the National Multiple Sclerosis Society, and Lineagen, Inc., an innovative molecular diagnostics company focused on complex, genetically linked disorders, today announced an alliance to fund the clinical development and validation of a blood-based assay for MS. Read more here.
- Researchers used novel methods to compare genetic material in three pairs of identical twins, where one twin had multiple sclerosis and the other did not. Read about the results here.