Research Objective We propose to apply scalable platforms for the characterization of CNVs and genes coupled with detailed characterizations of neurodevelopment of the 4 major CNV loci in model systems…
Research Objective Chromosomal microdeletion syndromes result in severe neuropsychiatric syndromes and lack therapy. This proposal will define critical genomic regions needed to generate new tools for functional rescue. Impact This…
Research Objective Neuropsychiatric disorders correlate to impaired metabolism, though understudied. We will describe how metabolism impacts disorders etiology and identify new, tractable therapeutic strategies. Impact We will uncover metabolic drivers…
Research Objective This project will interrogate interactions, distribution, and function of high-confidence neuropsychiatric disorder risk proteins, and identify convergent pathobiology of patient genetic variants. Impact Datasets and stem cell resources…
Research Objective We provide mechanistic insight into idiopathic Intellectual Disability (ID) and Autism Spectrum Disorder (ASD) based on aberrant redox-mediated posttranslational modifications related to air pollution Impact How air pollution…
Research Objective Our objective is to enable scalable genetic screening to study how different cell types and epigenetic networks are impacted by risk genes implicated in human psychiatric disorders. Impact…
Research Objective We will uncover pathways through which ASD mutations cause disease and close the gap from disease research to therapeutic testing using organoids, primary human neurons, machine learning and…
Research Objective The research will generate the know-how for replacing lost or injured bile ducts in the liver by reprogramming an abundant and related cell type that normally has a…
Research Objective Develop a high-throughput platform combining iPSC-derived cardiac organoids and CRISPR base editing to functionally assess missense variants in hypertrophic cardiomyopathy. Impact (i) Limited tools for functional interpretation of…
Research Objective Our project will identify molecular and cellular changes induced by specific genetic variants implicated in schizophrenia and autism spectrum disorder in stem cells, neuroprogenitor cells and neurons. Impact…
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