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Young Investigator Recipient Michelle Wegscheid Publishes Work in Stem Cell Reports

Michelle Wegscheid, a 2018 Young Investigator Award recipient from Washington University School of Medicine, published her work titled ‘Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations’ in Stem Cell Reports. Using engineered stem cell lines that harbored distinct NF1 germline mutations occurring in NF1 patients, Wegscheid and her colleagues showed that although all the mutations increased RAS activity, the effect on central nervous system development varied with the mutation type. This study provided direct evidence that NF1 gene mutations are not functionally equivalent at the cellular and tissue level, as suggested by genotype-phenotype correlations, and may explain the wide clinical variability of NF1. These observations have implications for disease risk assessment in NF1 patients and for developing targeted therapies.

Click here to read the full text in Stem Cell Reports.

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