Grant: CIHR Fellowship

Developmental disorders (DD) are a group of complex conditions that primarily impact neurodevelopment, beginning in infancy or childhood and persisting across the lifespan. Individuals with DD often suffer from impairments in various areas of development, including growth, language, learning, and sociability. DD includes conditions such as intellectual disability, autism spectrum disorders, and attention deficit hyperactivity disorder. Collectively these conditions affect about 3 of every 100 people in the world and place considerable strain on affected individuals, families, and society. There is significant evidence to support the association between rare genetic changes in regions of the genome that code for proteins (called a "gene") and DD. However, the majority of research to date has only focused on new (not present in either parent) genetic changes in a single gene. This type of genetic change, called a de novo mutation, can only account for about 30-35% of DD cases. The aim of this study is to determine what percent of DD cases can be explained by rare inherited variants (from either or both parents) in two or more genes. Our goal is to provide families of those with DD with a genetic diagnosis, which can help tailor health care decisions, inform future reproductive choices, and advance the design of new treatments.