Grant: Project Grant

Nearly 1 in 2000 babies are born with a genetic deletion (missing piece of DNA) on the long ('q') arm of chromosome 22. In addition to risk of visible birth defects and learning disabilities, we now know that these babies often develop other treatable or preventable conditions over their lifetime. The mental and physical health effects of the genetic deletion include conditions that greatly impact our aging Canadian population, such as type 2 diabetes, cholesterol conditions, and Parkinson disease, but here the risk is higher and applies to young adults. By comparing adults with the deletion to their siblings without the deletion, we aim to identify other genetic changes and non-genetic factors that they share or do not share. This will allow us to personalize risk estimates. Studying this chromosome deletion can give us new insights into the causes of health conditions where prediction and prevention continue to elude us in the general population. In total, we will study 500 people with the deletion, and 500 of their siblings without the deletion. For all 1000 individuals, we will obtain information on outcomes and disease. We will collect detailed genetic data that will allow us to assess DNA level changes that could affect the risk of developing preventable diseases. Non-genetic risk information will include early risk factors such as premature birth and later factors such as medications. Importantly, we will also assess the global burden of illness in this disadvantaged population and similarly for their unaffected siblings. Families, clinicians and researchers want to anticipate and ultimately prevent adverse health outcomes in at-risk individuals. Discovering the genetic and non-genetic factors that predict important illnesses in people from a high risk group could help us predict risk for individuals in the general population. This could help us intervene early to prevent illness and/or further complications or disabilities.