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Molecular, cellular, and phenotypic characterization of the murine (mdx) and canine models for Duchenne muscular dystrophy (DMD; golden retriever muscular dystrophy [GRMD]; german short-haired pointer muscular dystrophy [GSHPMD]; cavalier king charles spaniel muscular dystrophy). Molecular characterization with genome-wide mRNA and microRNA profiling via Affymetrix chip and proteomic profiling with mass spectrometry. Confirmation of molecular targets with qRT-PCR, western blot, immunofluorescence microscopy, etc. Cellular characterization of the canine models utilizing biopsy extracted muscle stem cells (myoblasts), including evaluation of the molecular and phenotypic effects of various treatments. Phenotypic characterization of the canine models using internationally established functional outcome measures developed in the Kornegay laboratory. Current research focus is on preclinical drug trials, including gene therapy (dystrophin gene replacement) via adeno-associated viral vector delivery; utilzing gene editing techniques such as CRISPR/Cas9 and TALENs for treatments of genetic disease; characterization of genetic modifiers via whole-genome next generation sequencing (discovery approach); and evaluation of muscle metabolism in dystrophin deficiency. Pre-clinical testing of novel therapeutics in mdx mice. Phenoytpic characterization of mdx mice and rat models of Parkinson's disease with grip strength testing, treadmill exercise, Rotarod, among others.
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