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The Basson laboratory aims to understand how chromatin remodelling factors control brain development and how mutation of these factors cause neurodevelopmental disorders. Our research will provide fundamental insights into the epigenetic mechanisms that underlie ataxia, developmental delay, autism, intellectual disability and executive dysfunction.

 

Mutations in CHD7 cause CHARGE syndrome, a syndrome that affects the development of multiple organs in the body. We have identified several critical roles for CHD7 in development of the cerebellum and our work has implicated CHD7 in cerebellar hypoplasia and medulloblastoma, the most common paediatric brain tumour.

 

Mutations in CHD8 cause autism, macrocephaly and intellectual disability. We have identified key, dosage-dependent roles for CHD8 in regulating autism-associated genes and brain growth.

 

RWe are taking novel, unbiased approaches 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.

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Our research is funded by the Medical Research Council, Simons Foundation Autism Research Initiative (SFARI), CHARGE syndrome Foundation and the Anatomical Society.

 

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