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National Multiple Sclerosis Society
733 Third Avenue
New York, NY 10017-3288
Tel 212 986 3240
1 800 FIGHT MS
Fax 212 986 7981
E-Mail: [email protected]
www.nmss.org
RESEARCH/CLINICAL UPDATE
September 23, 2005
Keyword: The International MS
Genetics Consortium
SECTION: GENETICS
ADDITIONAL ROUTING
_____ Research Advocate Staff Liaison
_____ Chapter President
_____ I & R specialists
NATIONAL MS SOCIETY COMMITS $1.1 MILLION TO CUTTING-EDGE
EFFORT TO MAP MS GENOME
The National Multiple Sclerosis Society, in partnership with International MS Genetics
Consortium (IMSGC), is committing $1.1 million to jump-start an international effort to
map the genome (all of the genetic material within humans) of multiple sclerosis. The
IMSGC is a group of international MS genetic experts created with funding from the
National MS Society. This group is using a new technological advance, a DNA chip that
enables investigators to test 500,000 individual genetic locations (sites within genes) at one
time for possible involvement in MS, potentially speeding the genetic analysis to less than
one year’s time. The Society and Harvard are uniting to jointly raise a total of $3.63 million
to complete this project.
“Genetics research has tremendous potential to help us pinpoint the underlying cause of MS
and improve the diagnosis and treatment of this disease,” says John R. Richert, MD, Vice
President of Research & Clinical Programs for the National MS Society. “But the complex
nature of MS genetics means that scientists have to work together to apply cutting-edge
technologies to the problem. The International MS Genetics Consortium can make all of this
happen – their efforts are already narrowing the search for genes that make people
susceptible to MS.”
Background: A major effort has been under way for over a decade to search for the genetic
underpinnings of MS – the inherited set of genes that make people susceptible to developing
the disease. If successful, it would give scientists a roadmap to the cause of MS, as well as to
concrete targets for new therapies and possibly even ways to prevent the disease. But this
painstaking search, involving analysis of the genome and the banking of thousands of DNA
samples from patients and family members, has not yet borne fruit beyond several possible
The National Multiple Sclerosis Society is proud to be a source of information about multiple sclerosis. Our comments are based on professional advice, published
experience and expert opinion, but do not represent therapeutic recommendation or prescription. For specific information, and advice, consult your personal physician.
“hot spots” on areas of the 23 pairs of ribbon-like chromosomes which require further
exploration. With the sequencing of the human genome completed in 2003, and the recent
completion of the “catalogue” of common genetic variation (known as the Haplotype Map),
the tools are finally emerging to comprehensively examine the human genome.
In 2003, David A. Hafler, MD (Harvard Medical School and Brigham and Women’s
Hospital) Stephen Hauser (UCSF) and Eric Lander (Broad Institute of MIT and Harvard)
jointly received the Palmer Collaborative MS Research Center Award: MS Targeted
Haplotype Project from the National MS Society to pool expertise and resources in attempts
to speed work toward discovering MS genes. This award propelled the formation of the
IMSGC, a collaborating group of investigators with expertise in genetics, database
design/construction, and clinical assessment and immunology of MS. This group includes
Drs. Alistair Compston and Stephen Sawcer (University of Cambridge), Drs. Jonathan
Haines (Vanderbilt University) and Margaret Pericak-Vance (Duke University) and Dr.
Jorge Oksenberg (UCSF). They have established a shared DNA repository, which enables
them to gather the large amounts of data necessary to conduct genetics studies.
Recently, the IMSGC published a study in which they examined 4,506 SNPs (single
nucleotide polymorphisms, i.e., single variations in genes) in genetic material from 2,692
family members, including 1,595 people with MS (The American Journal of Human
Genetics 77:454-467, 2005). There are millions of SNPs in the genome, but if some of these
slight variations can be identified as occurring more often in people with MS, this may
indicate a nearby susceptibility gene.
The IMSGC identified four regions on numbered chromosomes where SNP variations
indicate the possible presence of an MS gene. The main region identified was on
Chromosome 6 (6p21) – a source of genes that control certain immune system functions.
This region had been identified by several previous studies, but this study pinpointed this
area with a substantially higher linkage score than previous studies, indicating the additional
power conferred by their methods. This study highlights the need for developing genetics
technology that can scan genetic material speedily and comprehensively.
Conclusion: The IMSGC’s effort to identify the genes that underlie MS employs a high-tech
microchip that can scan 500,000 SNPs at once. This should speed the search for MS genes
exponentially. If successful, it would give scientists a roadmap to the cause of MS, as well as
to concrete targets for new therapies, the development of diagnostic kits that will help in the
early diagnosis of MS, and possibly even ways to prevent the disease.
-- Research & Clinical Programs