Grant: Doctoral Award - Frederick Banting and Charles Best Canada Graduate Scholarships

An experienced physician can make a diagnosis from a patient record in up to 90% of cases, and family history is one key component. New technology for genetic DNA sequencing is a powerful tool to find disease-causing genes. Combing pedigree analysis (genealogy), family medical history, and genetics, our team has identified a small piece of the human genome that is responsible to the development of a type of vision problem in a large family. Strabismus, often referred to as crossed eyes or squint, occurs when one or both eyes turns in, out, up or down and is common (2-4% of people) in Canada. Strabismus is the most common cause of amblyopia, which refers to poor vision in one eye and can lead to blindness in some cases. There are highly effective vision exercises to treat strabismus if initiated in young children under age two years, preventing severe problems and reducing the need for eye surgery. However, many children with the early signs are undiagnosed. Genes related to some complex syndromes have been identified as a cause of syndromic strabismus, but few are known for isolated strabismus, which is the most common form. This doctoral research project aims to identify the causal gene in the participant family, evaluate the gene's role in strabismus in other families, and extend the genealogy-enabled approach to allow for clinical precision medicine. The data points to a single gene as the cause in the family, but this needs to be proven. In this project, the equivalent gene will be disrupted in a type of fish commonly used for such studies. In parallel, additional families with multiple cases of strabismus are being sought for assessment. This study can lead to a better understanding and ultimately better treatment for strabismus. Within the research project, the utility of advanced genealogical information will be assessed for the most efficient approach to perform precision medicine analyses in a family-specific manner.