How does genetic variation contribute to multiple sclerosis?

Summary

We know that a person’s genetics can influence their risk of developing multiple sclerosis (MS). However, we do not know exactly which genes, nor how they cause MS to begin or worsen. This research aims to identify and study potential MS-associated genes. 

Dr Nicholas Blackburn will study families where multiple members have MS. They will look for changes in genes that may lead to MS by comparing the genes of family members with MS to those who do not have MS. The changes may be rare in the general population but can be repeated in a single family because of shared genetics. After finding these changes, Dr Blackburn will identify how they contribute to MS development. 

Dr Blackburn will study the changes that occur in MS families using laboratory-based experimental cell models. This will help determine how these rare changes make the cells of people with MS act differently. These cell models will be made directly from cells donated by the family members with MS and, for comparison, their unaffected relatives, who do not have the genetic changes. 

In addition, Dr Blackburn looks for rare genetic changes in thousands of unrelated people with MS. In these people, they will study the same genes found in the families, to see if other people with MS have the same or similar changes. They will also observe changes that are known to cause diseases that are like MS, to identify if some of the same genes might cause symptoms in people diagnosed with MS.