Epistasis Screening for Neuronal Mechanisms of Secretory Protein Trafficking

2021 Seed Grant
Ashleigh E. Schaffer, Ph.D.
Case Western Reserve University

Protein trafficking is the cellular process by which proteins are transported from their site of synthesis to where they are functionally required. How this is accomplished, and whether there are differences in this process between cell types is unclear. Neurons use this pathway to fold, modify and transport proteins important for neuronal development and function, such as neurotransmitters, ion channels, and synapse-associated proteins. Moreover, mutations in genes that control protein trafficking cause a diverse spectrum of untreatable neuropsychiatric and syndromic neurological disorders in patients. Here, we propose to apply innovative genomic methods to our novel human stem cell-based platform to identify new genes that regulate neuronal protein trafficking and discover genes that rescue protein trafficking defects in disease. Collectively, this work will improve our understanding of secretory protein trafficking in neuronal cells and identify novel therapeutic candidates for disorders cased by disruptions of this process.

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