Grant: CIHR Fellowship

Rare diseases are an important issue in Canada and worldwide. They collectively affect 1 person in 17, or as many as 2 million Canadians. Neuromuscular diseases are rare inherited diseases that affect the muscles and nerves and cause significant disability in both children and adults. Even though we now know of over 500 genes causing neuromuscular disease, in around 50% of patients the precise genetic cause can't be pinpointed after the initial analysis. Recent therapy developments are for the first time showing tremendous promise, but if a patient does not have a precise genetic diagnosis they may not be able to receive the best treatment for their condition. New technologies that look across the patient's entire genome are resulting in more diagnoses, but even healthy individuals have many places where their genome differs from others in a way that doesn't cause disease. This means that when we look at a patient's genome, sometimes we don't have enough information to decide which of the many genetic changes we see is responsible for the disease. My research aims to show that by making better use of the data that we have already, we can often bring it together in a way that allows us to reach a diagnosis. This includes information specific to the patient, especially the "phenotype" - the precise characteristics and symptoms the disease causes in the patient - and also data from experiments done in animal models for the disease. By standardising the ways we capture this data and linking different data types, we can more easily establish which is the disease-causing change and also potentially find other patients in other parts of the world with the same condition. I also aim to develop strategies that optimise the way we use, link and share data in order to create a workflow for undiagnosed neuromuscular patients that results in patients receiving a diagnosis more quickly in future.