The Multiple Sclerosis Genetics Group studies the role heredity plays in multiple sclerosis (MS). The group, founded in 1989, includes scientists at three academic medical centers — the Neurology at UCSF Medical Center, Program in Human Genetics at Vanderbilt University Medical Center and the Center for Human Genetics at Duke University Medical Center.
One of the goals of the group is to maintain and expand a repository of DNA material from families with multiple members who develop MS. This repository is used to promote research on genetic susceptibility to MS. With the support of the National Multiple Sclerosis Society, the group established the first Multiple Sclerosis DNA Bank, available to qualified researchers.
Scientists believe that genes, the fundamental hereditary units, play a role in determining who is at risk for developing MS, how the disease progresses and how someone responds to therapy. The group believes that genes associated with MS are not themselves abnormal. Rather, they include some variations that may or may not be common in the population. Some of these variations may be advantageous to have. However, in some combinations these normal genes appear to predispose some individuals to develop MS after exposure to an undefined environmental factor or factors.
The Multiple Sclerosis Genetics Group's strategy is to scan the entire genome of patients and their relatives to identify small chromosomal regions linked to the disease. Once discovered, these genomic segments are examined in detail to determine the exact location and characteristics of the MS-associated genes.
The "first pass" of the MS genome identified 19 different chromosomal regions harboring disease susceptibility genes, supporting the long-held view that multiple genes participate in this disorder. Seven of those have been confirmed. These results and those from research teams in Canada, Finland and England generated the first MS genetic map and have sparked a global effort to expedite the search for the cause of MS susceptibility.
The results demonstrate that genes not only influence who is at risk for MS but also affect clinical features such as age of symptom onset, severity, progression and response to drugs. The group's innovative research in pharmacogenomics seeks to identify the genetic factors that explain individual responses to drug therapy.
The group's research also has generated strong evidence that distinct forms of MS exist with different underlying genetic causes. These unexpected results have profound implications for the understanding of disease mechanisms and perhaps in the future for the clinical management of patients. A "genetic work-up" of a newly diagnosed patient will give neurologists important cues for the design of tailored treatment protocols. To advance this research, the group occasionally asks patients to fill out questionnaires or provide specific information about the course of the disease. Some patients are invited to participate in specific studies.
The group is studying populations from different ethnic backgrounds considered at low to medium risk for developing MS and continues its studies to understand why women are affected twice as often as men.
Strict research guidelines are maintained to protect the privacy of patients who participate. At all times, patient records and other information shared with investigators are handled confidentially. The group's research is regulated and reviewed once a year by the UCSF Institutional Review Board, established to protect the rights of study participants.
If you or someone in your family would like to participate in or learn more about this research, please visit the group's website.
Multiple Sclerosis Genetics Group
For more information, contact the group's clinical coordinator