Next generation sequencing in multiple sclerosis

Multiple sclerosis (MS) is the most common neurodegenerative disease in young adults, affecting over 20,000 people in Australia. 

An area of significant medical need is the progressive form of MS as it causes significant disability and is untreatable.

Knowing what genes are involved in progressive MS would increase understanding of the underlying biological processes leading to the development of new treatments.

We propose a novel hypothesis for the genetic basis of progressive MS, which if proven, has the potential to explain why some people with MS experience a very fast decline towards severe disability and why others are spared. Our hypothesis is that inflammation in the brains of people with MS drives the accumulation of damaging genetic mutations in cells called oligodendrocytes (OL) and also nerve cells. These damaging “somatic” genetic mutations cause OLs and nerve cells to not function as well and/or die, leading to the symptoms of progressive MS.

This project will use techniques developed in our laboratory to study somatic genetic variation in the genomes of OLs and neurons in post-mortem human brain tissue using next generation DNA sequencing.

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