University of Cambridge, UK: establishing a resource

Establishing the resource for a genetic analysis of progression

Principal Investigator: Stephen Sawcer, Ch.B., F.R.C.P., M.B., Ph.D.
Institution: University of Cambridge
Country: United Kingdom
Amount Awarded: €72,778

By bringing together dedicated researchers from 15 different countries, the International Multiple Sclerosis Genetics Consortium (IMSGC) has already successfully used genome-wide association studies to identify over 100 genetic variations influencing the risk of developing MS. The team now proposes to leverage the compiled DNA samples from 50,000 people with MS to compare gene profiles among 1000 people with the most severe course against 1000 people having the most benign course. The collecting together and collating of these samples should provide the first resource with sufficient power to identify gene variants that influence progression in MS.

What does this mean for people living with progressive MS?

This resource could provide a means to identify the key biological processes determining progression in MS, and point the way to selecting rational targets for therapy development.

Project Update

Status: Complete

This project supported the ongoing identification and preparation of DNA for a progressive MS GWAS (genome-wide associate study). Together, the members of the  IMSGC have collected DNA from 62,616 patients with multiple sclerosis. Information about clinical course (MSSS) is available from 41,758 of these, and 8,696 of those with MSSS data are aged over 55 and have a disease duration of >10 years. Each group in IMSGC has identified patients with benign and (MSSS <2.0) and severe outcomes (MSSS >8) from amongst older, long duration of disease subjects, providing a total of 2,000 subjects  in all: 1,000 benign and 1,000 severe. To date, DNA from 1,251 of these extremes of phenotype individuals has been shipped to Cambridge for inclusion in GWAS studies. Further, samples have been shipped to Miami (the  IMSGC genotyping centre) in anticipation of complete genomewide analysis of these samples.

Principal Investigator: Stephen Sawcer

Dr. Stephen Sawcer received his MB, ChB degrees in medicine at Birmingham University and earned a PhD in Medicine from the University of Cambridge. He has been deeply involved in the International Multiple Sclerosis Genetics Consortium (IMSGC), formed to leverage new technologies emerging through the human genome project. Bringing together researchers from Australasia, Europe and North America, the group achieved critical mass in terms of sample size and has been highly successful in pushing forward our understanding of the genetic basis of susceptibility to MS. Among its achievements were the largest MS genome-wide association study (GWAS) (Nature 2011), the largest GWAS follow up study (Nat Genet 2013) and other papers. The consortium has identified over 100 genetic variants influencing the risk of developing MS, and is now focusing on identifying the genetic factors shaping progression in the disease.


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