Grant: CIHR Fellowship

Specific language impairment (SLI) is a learning disability found in 7% of kindergarten children and is defined as language difficulties in the absence of other developmental defects. Little is known about the causes of SLI, except that it is more common in boys than in girls, and that genetics play an important role. My research aims to identify the genetic causes of SLI by using emerging data on gene activity. Gene activity varies across tissues within an individual and between males and females, and abnormal gene activity can cause disease. Massive efforts are underway to explore the factors that regulate gene activity, and my project will use data from the Genome Tissue Expression database, which is characterizing regions of the genome that regulate gene activity in 40 different cell types and in 1000 individuals. SLI is a neurodevelopmental disorder that is more common in boys than in girls. I therefore hypothesize that the risk of SLI will be affected by regions of the genome that regulate gene activity in the brain, as well as regions of the genome that regulate gene activity differently in both sexes. I will use biostatistics to test these hypotheses, and results will help us better understand the underlying biology of SLI, the first step towards developing new treatments. Results may also be relevant to developmental disorders in which language impairment is a core feature (e.g., autism, cognitive impairment), and my methods could serve as a framework for investigating the role of gene activity in many different human diseases.