Josh is currently finishing his final semester of his undergraduate degree in Translational and Molecular Medicine (TMM) and transitioning into a summer studentship with the Lochmüller lab. His interests are rare disease research, with an emphasis on neuromuscular and neurological diseases. Josh has prior experience in multiple fields, including experience with the Lochmüller lab studying MuSK agonist therapy for Congenital Myasthenic Syndrome and developing an in-silico workflow to predict the protein impact of splice-altering variants. In fact, his current project involves improving and standardizing the in-silico workflow that he and Dr. Polavarapu developed in the summer of 2023. This will involve analysis of more reported and novel splicing variants in NMD genes.
Polavarapu, K, O'Neil, D, Thompson, R, Spendiff, S, Nandeesh, B, Vengalil, S et al.. Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects. Neuromuscul Disord. 2024.39 10-18 PMID:38669730
