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Announcing the genetic and genomic map of multiple sclerosis

It is a great privilege to publish today in Science the genetic and genomic map of multiple sclerosis on behalf of the International Multiple Sclerosis Genetics Consortium (IMSGC). We analyzed the whole-genome of more than 47,000 cases and 68,000 controls and performed a one of a kind exhaustive association analysis that revealed 233 genome-wide associations (p-value<5×10-8) and another 416 associations that were statistically replicated but did not reach the genome-wide level of significance. Our findings explain up to 48% of the disease’s heritability, establishing multiple sclerosis as one of the most well-characterized genetically disease. Via an ensemble of gene prioritization methods, we provide a detailed map of 511 putative causal genes. Through several enrichment methods and cell-specific data, we describe that the genetic predisposition to multiple sclerosis is mediated via effects in several cells in the immune system, with an almost complete absence of neuronal tissue. We provide a detailed list of 151 enriched pathways at a false discovery rate of 5%. Finally, we describe the protein-level connectivity of most of the putative causal genes, suggesting unknown underlying mechanisms.

You can access here the official press release.

A big thank you to the many members of the IMSGC, the several fundings agencies (especially the National Multiple Sclerosis Society; NMSS),  and our patient editor in Science Laura Zahn and her team.

I am extremely thankful that my lab and I are continuing our efforts to solve the puzzle of multiple sclerosis. With collaborators in the IMSGC, we are building the sex-specific genetic map of multiple sclerosis. We are translating these findings to precision medicine models as part of a newly awarded Harry Weaver Neuroscience Scholar Award from the NMSS, in collaboration with many great scientists at the Ann Romney Center of Neurological Diseases, including Howard Weiner, Tanuja Chitnis, Rob Bakshi, and Vijay Kuchroo. We are creating cell-specific drug-response maps in collaboration with the scientists at the Broad Institute, supported by a generous Nancy Davis Young Investigator Award. Finally, we are generating detailed genomic and epigenetic maps of brain lesions, in collaboration with Charles Guttmann. We are actively looking for talented post-doctoral fellows and students! Reach out for more information.

We are hiring!

PS1: You can visit here a previous post on the unseen aspects of large multi-year projects.

PS2: You can find here and here the two other recent IMSGC papers.

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