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High-throughput screens to discover regulatory mechanisms contributing to autism spectrum disorder

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Geller, Evan

Noonan, James

Yale University

$64,000.00

2 years

Weatherstone Predoctoral Fellowship

New Haven

Connecticut

United States

2017

http://www.yale.edu

https://plu.mx/autismspeaks/grant/autismspeaks-10577

Identification of rare coding variants associated with ASD has yielded novel insights into the condition’s biological origins. Yet these protein-coding variants account for only a small fraction of overall genetic risk. And while whole genome sequencing studies continue to identify common and rare non-coding variants associated with ASD, the biological effects of these variants on neurodevelopment are poorly understood.
To address this fundamental gap in the field, I will build an experimental system capable of interpreting the biological impact of non-coding genetic variation on ASD risk gene function. I will focus on neural stem cell proliferation, a key process of neurodevelopment associated with ASD.
I propose to apply high-throughput genome editing to cellular models of ASD risk genes to:
1) Identify functional effects on proliferation by disrupting thousands of genes and enhancers active during early brain development.
2) Identify direct and indirect regulators of ASD risk genes in order to reveal ASD-associated pathways affecting neural stem cell proliferation.
Together, these aspects of my research proposal will address key questions in ASD biology while generating empirical datasets that will support the interpretation of non-coding genetic variation found by whole genome sequencing studies.

Developmental Neuroscience, Genetics, Genome Editing, Computational Biology, Genomics, In-Vitro Models, Biology, Etiology/ Risk Factors

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