Research & Publications
Modeling congenital muscular dystrophy via induced pluripotent stem cells.
Specialized Terms: iPSCs, ESCs; Differentiation; Patients; Myogenesis; Transgenic
Extensive Research Description
- My past work was to creating transgenic mouse models to study the prostate cell populations and characterize the adult stem cell in prostate epithelial cell compartment. My current project is to modeling congenital muscular dystrophy via induced pluripotent stem cells. We focus onX-linked myotubular myopathy (XLMTM), a severe form of CMDs. Although thedeletion or point mutation of MTM1gene has been implicated in the etiology of this disorder, to date itspathogenesis is poorly understood. Recent progress in our understandingof human induced pluripotent stem cells (iPSCs) opened a new avenue formodeling human diseases. This dynamic recapitulation of disease process willhelp gain insight into disease pathogenesis and might potentially aid infinding specific therapeutic interventions such as gene-based therapy. Inthis study we are aimed to generate the iPSCs from somatic cells of patientswith XLMTM as well as to induce differentiation of these patient specific iPSCsinto functional myocytes.
Muscular Dystrophies; Neurobiology; Muscle Development; Induced Pluripotent Stem Cells