School of Chemistry Colloquium: Dr Irelenia Nobeli (Birkbeck, University of London) What Omics has taught us about Autism

School of Chemistry Colloquium open to final year project students, MSc students, PhD students, post-doctoral researchers and academic staff.

Autism is the most prevalent neurodevelopmental condition, characterised by a great diversity in phenotypes and a lack of a clear molecular mechanism that could explain them. A number of biological processes have been implicated in the aetiology and pathology of autism, ranging from genetic mutations to environmental factors, highlighting the complexity of this condition. Here, I present first, a brief summary of some of our current knowledge of the molecular basis of autism and then focus on our own computational analysis of omics datasets. I will show evidence from transcriptomic studies of post-mortem brain samples that a fundamental process of regulating gene expression in eukaryotes, the decision of where a transcript will terminate, is dysregulated in the autistic brain. I will then present further evidence of changes to gene expression in the autistic brain, as a result of dysregulated selection of both the start and ends of transcripts using specialized sequencing. Finally, I will show that both changes in the efficiency of translation observed in the autistic brain samples and their selective reversal by rapamycin are recapitulated in an in vitro model of Tuberous Sclerosis Complex, a multi-system disorder caused by known genetic mutations that is often accompanied by autistic traits. This observation opens the possibility of using this model to test new therapeutics for severe forms of autism.

Dr Irelenia Nobeli (Birkbeck, University of London)