Uncovering Genetic Mechanisms of ASD
Boston Children's Hospital
Basic & Clinical
Gene expression, or mRNA profiling, has been used successfully in cancer research to help characterize and categorize different types of neoplasia and predict such behaviors as responsiveness to treatment and likelihood of metastasis. Dr. Kunkel and colleagues plan to use expression profiling to explore the possibility of establishing “signatures” of gene expression that could distinguish individuals with autism from controls. In addition, he intends to examine splicing patterns of neuronal mRNA that could lead to pathogenesis to explore a possible mechanistic link with observed copy number variants (CNV). What this means for people with autism: The identification of gene expression “signatures” for autism could inform the development of diagnostics like it has in cancer and opens the possibility of stratifying the population for targeted intervention.