So far, critical roles for CHD7, the factor mutated in CHARGE syndrome, have been identified in controlling development of the cerebellum. They are investigating the function of CHD8, a high confidence autism-associated factor, and other chromatin remodeling factors directly regulated by, or otherwise functionally associated with CHD8, in brain development. These studies aim to provide fundamental insights into the epigenetic mechanisms that underlie ataxia, developmental delay, autism, intellectual disability and executive dysfunction.
Related to this core interest, novel unbiased chromatin conformation capture techniques are employed to identify cell type-specific distal regulatory elements that control and fine-tune the expression of key neurodevelopmental genes in the cerebellum, in order to identify non-coding substrates for neurodevelopmental disorders. Finally, the group are interested in understanding how non-genetic, environmental factors may affect autism risk.