Research Focus

Thesis Project Title: Molecular Functions of Auts2 and its Neurological Phenotype
Mutations in the gene Auts2 have been found to cause severe intellectual disability and developmental delay in multiple patients, and with various neurodevelopmental defects in animal models. Auts2 has also been implicated in schizophrenia risk, susceptibility to heroin dependence, suicide risk under the influence of alcohol, and alcohol consumption. Our lab identified auts2 as a gene of interest as a result of studies on TBR1 (T-box, Brain 1) deficient mice; in which auts2 (typically expressed in mature but newly established cortical neurons) was one of the most dramatically down regulated target genes. Auts2 appears to be one of the main transcriptional effectors downstream of TBR1 regulating the expression of a number of neurodevelopmental and signaling genes. Using a combination of molecular and physiological techniques my project is to determine what pathways are altered in auts2 deletion and how those alterations impair the ability of affected neurons to wire into active networks.

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