Grant: CIHR Fellowship

Neuromuscular disorders are rare inherited diseases affecting both children and adults with muscle weakness as a common feature due to defects in the function of muscles and/or nerves. While more than 600 genes have been identified as causing neuromuscular disorders, many patients still remain undiagnosed after available diagnostic genetic testing. Current tests predominantly focus on analysis of coding regions also called exonic regions of known disease causing genes. Advanced techniques like whole genome sequencing with rapidly reducing costs can give access to analyze non-coding regions which are not usually covered in routine exome sequencing. In addition some of the unsolved patients might be having mutations in new genes not previously reported to cause any neuromuscular disorder. I aim to do a structured analysis of whole genome sequencing data in unsolved neuromuscular patients and their family members to identify non-coding mutations and novel gene associations. The analysis of 'non-coding regions' and novel genes will help in increasing the diagnostic rate of NMDs. This will further help in reducing the diagnostic delay in unsolved patients with better access to management plans including advanced gene therapies and aid in giving appropriate genetic counselling for the families.