Dr Robert Weatheritt
Dr Robert Weatheritt

Our autism research

In some cases, autism spectrum disorder can be traced back to a single gene, but those cases are rare. A team of Garvan researchers, led by Dr Robert Weatheritt is beginning to explore beyond single genetic changes and investigate how the DNA, and in particular protein-coding regions, are controlled and expressed.

A key regulatory process controlling protein function is ‘alternative splicing’', which facilitates the stitching together of genes in novel and unique ways. Alternative splicing is particularly prevalent in the nervous system and our research has shown it is misregulated in a third of autism spectrum disorder cases.

By examining why and how this misregulation occurs, we aim to develop novel therapeutic strategies for reducing symptoms related to ASD.

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