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.
Senior Scientist
Professor
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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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.
- Spatiotemporal proteomic profiling of human cerebral development. Djuric U, et al. Molecular and cellular proteomics. 2017 Sep. 16(9):1548-1562.
- MECP2 is post-transcriptionally regulated during human neurodevelopment by combinatorial action of RNA-binding proteins and miRNAs. Rodrigues DC, et al. Cell Reports. 2016 Oct. 17(3); 720-734.
- Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome. Khattak S, et al. Molecular Brain. 2015 Nov. 8(1):77.
