— Published Date: 5/14/2025
Value Proposition: Method that uses gene-therapy to detect limb-girdle muscular dystrophy (LGMD) type 4R/2E.
Technology Description
Researchers at Washington University in St. Louis have developed a method of predicting limb-girdle muscular dystrophy (LGMD) type 4R/2…
— Transgenic mouse strain designed and developed by Dr. Conrad Weihl with a mutation of the DNAJB6 gene at the F90I protein. This homologous with the human form of muscular dystrophy with patients having a genetic variant at the F89I protein.
— Valosin Containing Protein (VCP) patient derived fibroblasts, reprogrammed into iPSC cells and corresponding gene corrected line. These cells can be used to model VCP associated muscle disease, ALS, and dementia.
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