Grant: Project Grant

Tuberous sclerosis complex (TSC) affects approximately 1/6000 children born. This genetic disease affects many different organs of the body, in particular the brain. Disease severity varies dramatically between individuals, even among members of the same family. TSC affects molecular pathways in the body that are important for controlling the human immune system. We hypothesize that the immune system and related inflammation of the brain are abnormal in people with TSC. We hypothesize that inflammation of the brain in people with TSC is related to the development and severity of epilepsy, as well as related disorders of the brain including intellectual disability and autism spectrum disorder. Our research program is recruiting a large group of children, adolescents, and adults from 3 TSC clinics in Canada. We will test for a series of specific molecules in the blood that are associated with inflammation of the brain and activation of the body's immune system. Our first goal will be to identify which of these molecules are already elevated in people with epilepsy or related brain disorders. Our second goal will be to assess which of these molecules can predict their response to treatment with medications to treat TSC. Our research will provide a better understanding of how brain inflammation is associated with epilepsy, intellectual disability, and autism spectrum disorder in people with TSC. Our research will lead to new ways to treat people with TSC, whether it is new strategies using existing TSC treatments or the use of new interventions that further target the immune system.