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Researchers Recruiting 5,000 First-Degree Relatives of People with MS for Genetic/Environmental Research Study

October 17, 2013

Researchers from Columbia University Medical Center, in collaboration with the National Institute of Neurological Disorders and Stroke (a branch of the National Institute of Health, NIH), are recruiting 5,000 subjects who have at least one first-degree relative with a diagnosis of MS.  The goal of the study is to identify the genetic, environmental and immune profiles that may increase a person’s risk of developing MS.  A first-degree relative could be a parent, sibling, or child of a person with MS, and the study is limited to those between 18 and 50 years of age. The GEMS (Genes and Environment in MS) study is led by primary investigator Philip De Jager, MD, PhD, a Harry Weaver Neuroscience Scholar of the National MS Society. The study is privately funded. Daniel Reich, MD, PhD, is the site principal investigator at NIH.

Background: An individual's risk of developing MS increases several-fold if a close family member has MS. There is currently no way to predict which family members will develop MS. Genetic, environmental and immunologic studies to date have identified key markers that are associated with the risk of MS.  The GEMS Study is gathering genetic material (DNA) and environmental exposure history from participant as well as blood samples and brain magnetic resonance imaging (MRI) as an option.  Investigators are testing the performance of a new method of identifying persons at risk for MS.  Identifying high-risk individuals will influence the design of effective preventive strategies for MS.

The Study: Investigators are recruiting 5,000 first-degree relatives of MS patients. A first-degree relative could be a parent, sibling, or child between 18 and 50 years of age. The first-degree relative may or may not have an existing diagnosis of MS, but must have the ability to provide consent and be willing to participate in the study.

All 5,000 participants are being asked to donate a saliva sample for DNA analysis and complete a questionnaire about neurologic history, family history and potential environmental exposures. Based on answers to this questionnaire and the DNA analysis, the team will be collecting blood samples and MRI scans from a subset of participants who chose to participate in that part of the study. The team will contact all participants every three years for up to 20 years to obtain an updated questionnaire.

There is no cost to participate in the study, and participants can reside anywhere in the United States because no travel is required to enroll in the study. Some travel may be required for the optional MRI portion of the study at the NIH (Bethesda, MD) and the participant will be reimbursed for travel cost.

All participants are assigned a unique study identification number to ensure complete confidentiality.

Using this information, the investigators plan to pinpoint specific genetic, environmental, and immunologic factors that may increase a person’s risk of developing MS. These findings may allow for earlier intervention to slow down MS or help to develop strategies for preventing the disease.

Contact: For more information about this study, please contact the research coordinator:
 Fatoumata Diallo 
Phone: 212-305-1485
**E-mail (preferred for more rapid response): 
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About Multiple Sclerosis

Multiple sclerosis is an unpredictable, often disabling disease of the central nervous system. Symptoms range from numbness and tingling to blindness and paralysis, and there is currently no cure for MS. The progress, severity and specific symptoms of MS in any one person cannot yet be predicted, but advances in research and treatment are leading to better understanding and moving us closer to a world free of MS. An estimated 1 million people live with MS in the United States. Most people with MS are diagnosed between the ages of 20 and 50, and it affects women three times more than men.


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