Grant: CIHR Fellowship

Rare diseases (RDs) are typically genetic conditions caused by mutations in genes essential for one of the many complex reactions within our cells. Although by definition RDs affect less than 1 in 2000 individuals, cumulatively, they affect an estimated 1 in 12 Canadians. Numerous individuals affected by RDs have been evaluated by multiple medical professionals, but do not have a diagnosis. In addition to mutations that directly alter genes, RDs can be caused by mutations in an individual's DNA which result in changing the activity of that gene - this type of mutation is difficult to identify with DNA sequencing. This project will use a new technology to evaluate gene activity directly in patient cells compared to healthy cells, to determine which genes are impacted. It is anticipated that this approach will provide a diagnosis for many RD patients who have not been able to obtain a diagnosis from DNA-sequencing. This research is significant because the pace of novel RD gene discovery is slowing and new methods are needed to identify the remaining, yet undiscovered, RD mutations. By enabling accurate molecular diagnoses and guiding the identification of therapies, this will ultimately enhance patient care. Within the healthcare system, accurate diagnoses removes the need for further testing and unnecessary surveillance, thereby creating healthcare efficiencies. For patients, an accurate genetic diagnosis informs care and counseling, and facilitates targeted and effective treatments.