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.
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. The IMSGC recently identified variations in two genes that help regulate the immune system as clearly increasing genetic susceptibility to MS, as well as several other genes of newly suspected importance in MS, some of which have, as yet, no known function. These have now become targets of intense research interest by MS investigators. Read about recent progress by these investigators.
The National MS Society is currently funding about 13 research projects focusing on the genetic underpinnings of MS, for a total commitment of over $9 million. These include:
- Jorge R. Oksenberg, PhD (University of California at San Francisco) and colleagues are conducting family-based genetic studies in ethnically distinct populations as an approach to identifying genes that contribute to MS susceptibility. In conjunction with an international team of genetics investigators, Dr. Oksenberg has screened genetic material from hundreds of families with multiple members who have MS in search of MS susceptibility genes. Now he is fine-tuning this search by collecting blood samples from a large number of ethnically diverse families with one or more members who have MS. The team is focusing on ethnic groups with lower susceptibility to MS (such as African-Americans) and higher susceptibility (such as individuals of Northern European descent), and is searching for commonalities and differences that may help pinpoint chromosome regions that contain MS genes.
- Stephen Hauser, MD (University of California, San Francisco) has been “banking” genetic material from individuals and families with MS as a shared resource for studies searching for genes that confer susceptibility to MS. With funding from the National MS Society, Dr. Hauser’s group gathers and stores a large number of blood samples (from which DNA is derived) from people with MS, including those with no family history of the disease and those whose families have multiple members with the disease. These samples are used by Dr. Hauser’s research team and are also shared with researchers around the world studying MS susceptibility. This project is funded in part by a grant from the Brodsky Family Foundation.
- Sergio E. Baranzini, PhD (University of California, San Francisco) is cataloging patterns of genes from people with MS for clues to factors controlling disease susceptibility, severity, progression and response to therapy. Part of a world-class team, Dr. Baranzini is collecting blood samples from 500 people with MS at different time points over a two-year period. Using state-of-the-art technology, patterns of gene expression – that is, identifying which genes are activated and which are quiescent – are then being correlated with clinical symptoms and other clinical data. The information gleaned from this analysis is being made available to other researchers worldwide.
Download (pdf) summaries of recently funded genetics projects