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PROJECT 5: An International Network to Decipher Function and Impact of CNS-relevant Risk Variants for MS will link with Gene discovery and lead compound identification for Progressive MS

Lead Institution: Yale University School of Medicine; New Haven, CT (U.S.)
Project Principal Investigator: David Hafler

Project Summary:

Understanding progression in MS requires identifying and understanding the cellular mechanisms responsible for progression, enabling ways to then identify patients at risk of developing progression.  The project will leverage an integrated approach to identify genes that predispose to MS (risk genes) AND are at the same time important to the function of brain cells. These particular genes are likely to directly contribute to neurodegeneration and thereby to disease progression. Once identified, large patient cohorts from around the world will be tested for these genes to verify the higher likelihood of severe progression development. Ultimately, these genes can then be monitored for response to specific treatments that target that genetic dysfunction.

New technologies will be leveraged in the work, along with analysis of existing genetic studies and the known 150 genes associated with risk in developing MS. The groundbreaking approach of re-programming human skin cells into brain cells combined with the ability to study differences between individuals with and without risk genes,the project can result in a high-throughput system to test which preclinical drugs might help prevent progression in an individual.

Senest opdateret: d. 26 oktober 2015