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I am a graduate student enrolled in the Genetics PhD program. My main project entails evaluating the effect of human PRICKLE gene mutations on Wnt-mediated signaling, REST-mediated transcriptional repression and neurite extension. The second part of this project involves the identification and characterization of novel PRICKLE partners. Experimental approaches include co-imunoprecipitation, immuno-staining, and luciferase and neurite extension assays. Findings would help elucidate the pathophysiology of progressive myoclonic epilepsy, which would be helpful in the identification of novel therapeutic targets.
I also work on a project involved in the identification of Copy Number Variations (CNVs) that contribute to Neural Tube Defects (NTDs) in humans. Using an innovative microarray re-use protocol, microarray-based Comparative Genomic Hybridization (aCGH) is carried out on densely tiled microarrays with ultra-high resolution to identify CNVs contributing to the NTD phenotype in patients. Quantitative Polymerase Chain Reaction (qPCR) and other functional studies would be employed to identify individual causative genes which would help elucidate their pathways and decipher the complex etiology of NTDs. Findings would be used in the development of therapies in the future.
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