Multiple Sclerosis (MS) is a neurodegenerative disease that affects the central nervous system, resulting in severe physical impairment, including partial or complete paralysis. It is estimated that half of all patients definitively diagnosed with MS will be unable to walk unaided within fifteen years of diagnosis. The onset of MS usually occurs between twenty and forty years of age. However, because MS shares many symptoms with other diseases, diagnosis is generally very difficult, with a definitive diagnosis taking no less than six months, and in many cases, even years to confirm. While it is estimated that the number of MS-suspected physician visits in the U.S. range from 150,000 to 300,000 each year, other estimates indicate that up to one million patients visiting physicians each year have some symptom that leads the doctor to suspect MS. Regardless of the estimate, there is an overwhelming need for additional diagnostic data early in the clinical course of MS in order to obtain a definitive diagnosis, predict disease course, and initiate appropriate therapy.

University of Utah MS Research Initiative

Lineagen is working with the departments of Neurology and Human Genetics at the University of Utah on a two-part study to identify genetic and molecular markers associated with MS. The first part is a pedigree-based research program involving more than thirty “high-risk” families with MS. The second part of the study involves hundreds of people with MS that are unrelated. Participants from both studies have been analyzed using the Affymetrix SNP 6.0 microarray. In addition to this genetic analysis, this program also includes in-depth analysis of molecular markers including Vitamin D levels, cytokine levels, and other biological molecules thought to be associated with MS.

The genetic regions identified from these studies were isolated and enriched using Agilent’s SureSelect sequence capture technology and then sequenced using Illumina’s Next Generation Genome Analyzer. The discoveries from this research are currently being analyzed and we are preparing to further assess these markers in an upcoming replication study.