Using Rare Genetic Disorders to Identify Genetic Interaction in Autism

Although few common, highly penetrant genetic risk factors for autism have been identified, several rare genetic diseases have been long thought to be associated with autism, including neurofibromatosis type 1, tuberous sclerosis complex, fragile X syndrome, Turner syndrome and other extremely rare disorders. Although individuals with these well-defined genetic disorders may have higher prevalence of autism than the general population, there is still variance in the expression of autism in individuals with the associated genetic disease. Given this variation in expression of autism in the presence of a strong genetic risk factor, these subjects may offer a powerful tool to identify genetic interaction in autism. Our current focus is on diseases caused by genes in the Ras-MAPK signaling pathway (RASopathies), including neurofibromatosis type 1, Costello syndrome, cardio-facio-cutaneous syndrome, and Noonan/LEOPARD syndrome. 

We study RASopathies in collaboration with Dr. Katherine Rauen, medical geneticist and director of the UCSF NF/Ras Pathway Clinic.