Grant: CIHR REDI Early Career Transition Award - Rare Diseases

Neurodevelopmental disorders (NDDs) that severely impair typical brain development affect 3-4% of children. Advances in DNA sequencing technology have greatly improved our ability to diagnose patients with NDDs, but a cause is currently found in less than half of NDD patients with suspected genetic diseases who undergo standard clinical testing. A genetic diagnosis is crucial to treat patients with NDDs effectively, and such treatments can substantially improve the patient's quality of life and long-term health outcomes. However, current clinical genetic tests, even those that scan the entire DNA sequence of an individual (called whole-genome sequencing), cannot detect some kinds of disease-causing mutations. My research will leverage state-of-the-art genome sequencing technologies and software to identify the genetic cause of NDDs in patients in whom current clinical tests fail. Detecting and thoroughly characterizing these mutations in patients with undiagnosed NDDs will provide critical insights into the contributions of these mutations to disease and will pave the way for the discovery and development of new treatments for NDDs. Our study will also outline the utility of advanced genetic testing for clinical diagnoses, promote the integration of such tests into the routine clinical diagnostic assessments of patients with NDDs, and bridge the existing gaps in NDD molecular diagnosis. Our efforts will provide patients with NDDs access to advanced genetic tests and establish diagnostic workflows that can be extended to patients with other rare genetic disorders.