SFARI is pleased to announce that it has awarded 32 grants (19 Pilot Awards and 13 Research Awards) in response to the 2017 Pilot and Research Awards request for applications (RFA).
The Noonan lab will systematically identify ASD regulatory networks in the developing brain at high resolution, revealing cellular and developmental mechanisms underlying ASD risk.
Genetic risks for autism are diverse and encompass mutations and copy number variations in hundreds of genes. However, autism is diagnosed through the evaluation of a shared set of symptoms that include social interaction deficits and repetitive or restrictive behaviors.
SFARI is pleased to announce that it has awarded 28 grants (15 Pilot Awards and 13 Research Awards) in response to the 2015 Pilot and Research Awards request for applications.
Recent studies have provided compelling evidence that loss-of-function mutations in the CHD8 gene, which encodes an ATP-dependent chromatin-remodeling factor, are associated with an autism subtype characterized by macrocephaly, specific craniofacial features and gut immobility. The CHD8 protein modifies the structure of chromatin in the cell nucleus, and in vitro studies have suggested that CHD8 might function as a regulator of the developmentally important Wnt and PTEN signaling pathways. Tight control of both of these pathways is critical for normal brain development, and mutations that affect their activity have been strongly associated with autism and brain size. It is therefore important to test whether CHD8 functions as a regulator of these pathways during brain development.
Abnormal patterns of head and brain growth have been reported in a subset of individuals with autism. A heterogeneous collection of genetic risk factors for autism and micro- and macrocephaly have been identified, including mutations in genes acting in the PI3K-AKT-mTOR (e.g., PTEN) and Wnt-beta-catenin (e.g., CTNNB1, CHD8 and TCF4) signaling pathways.