OUR MISSION
We aim to discover basic mechanisms that control gene expression and epigenetic reprogramming. We strive to apply this knowledge through manipulation of induced pluripotent stem (iPS) cells to model human disease and test potential therapies for personalized medicine.
Ongoing research in our group centers on disease modeling and drug screening using induced Pluripotent Stem (iPS) cells. Initially we used a novel EOS reporter vector to reprogram patient fibroblasts into iPS cells and more recently we perform CRISPR gene editing to create isogenic cell pairs. Next, Neural Progenitor Cells (NPC) are generated to produce neurons for defining phenotypes and expression patterns that are related to Rett syndrome (RTT) and autism spectrum disorder (ASD).
We also collaborate with the Mital lab to evaluate the cardiomyocyte phenotype of pediatric cardiomyopathies. Drug testing is then performed to rescue the patient-specific in vitro phenotypes. Overall, our goal is to utilize reprogramming technology to repurpose or identify novel drugs for personalized medicine.
Recent Publications
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Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation. Hildebrandt MR, et al., Stem Cell Reports. 2019 Nov 27.
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Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS. Ross PJ, et al., Biological Psychiatry. 2019 Jul 29.
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SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons. Zaslavsky K, et al., Nature Neuroscience. 2019 Apr;22(4):556-564.
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CNTN5–/+or EHMT2–/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks. Deneault E, et al., Elife. 2019 Feb 12;8.
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Complete disruption of autism-susceptibility genes by gene editing predominantly reduces functional connectivity of isogenic human neurons. Deneault E, et al., Stem Cell Reports. 2018 Nov 13;11(5):1211-1225.
