Modeling PMD

Our newest paper on modeling Pelizaeus-Merzbacher Disease (PMD) is out today in the American Journal of Human Genetics. Lead author Zach Nevin generated panels of hiPSCs and oligodendrocytes from 12 PMD patients spanning the genetic and clinical diversity of PMD—including point mutations, duplications, triplication, and deletions of PLP1—and developed an in vitro platform for molecular and cellular characterization of all 12 mutations simultaneously. Identification of unique, as well as shared, defects in PLP1 mRNA expression and splicing, OPC development, oligodendrocyte morphology, and myelination from this study will facilitate personalized treatments in the future.

Access CWRU press release here
Access the paper here .

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