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
- Calcium-dependent hyperexcitability in human stem cell derived Rett syndrome neuronal networks. Pradeepan K. et al.2024. Biological Psychiatry: Global Open Science, 4:100290
- Systematic characterization of regulatory variants of blood pressure genes. Oliveros W. et al.2023. Cell Genomics, 3(7):100330
- Buffering of transcription rate by mRNA half-life is a conserved feature of Rett syndrome models. Rodrigues D.C. et al., 2023. Nature Communications, 14:1896
- Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations. Mok R.S.F. et al., 2022. Translational Psychiatry, 12:450
