PhD project finds answers for families with undiagnosed neuromuscular disorders

23 September 2021

Events, Research, Students

Sam Bryen works within the Genomic Medicine research group at Kids Neuroscience Centre. Sam recently submitted her PhD which was generously supported by the award of the Sue Connor Scholarship from Muscular Dystrophy NSW.

Sam’s PhD project focused on finding a genetic diagnosis for families around Australia and New Zealand with undiagnosed neuromuscular disorders. These families have typically undergone many genetic tests that haven’t revealed any answers. The work Sam undertook helped to provide genetic answers for 51 affected individuals from 37 families, who presented with a range of neuromuscular conditions.

Sam studied genetic variants that disrupt the cellular process of pre-mRNA splicing, or “splicing variants” for short. Splicing variants are often missed by the standard genetic tests available for undiagnosed individuals with neuromuscular conditions. Therefore, by understanding how to better detect and interpret this type of genetic variant, she aims to improve the diagnostic rates of neuromuscular disorders. Finding a diagnosis for these families provided answers some had been seeking for many years. It also resulted in the ability to provide effective clinical treatment, improving mobility and quality of life. Family planning options also became available for some families.

Sam’s thesis is entitled “Identification and molecular mechanisms of pathogenic splicing variants in neuromuscular disorders”. This work was enabled by collaboration with the Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard in Boston.

Find out more about Sam’s project.

Events, Research, Students