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 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 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 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 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 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 We will generate insights about mechanisms by which 𝛼-synuclein leads to neurodegeneration of the forebrain and substantia nigra, regions affected in Lewy body dementias and Parkinson disease. Impact…
Research Objective We will build a foundational model and experimental platform to catalog all genes that promote and protect against PAH, with the potential to extend to many other developmental…
Research Objective Elucidation of pregnancy-related factors that mitigate cellular senescence and enhance regeneration has far-reaching implications for understanding the mechanisms of aging and rejuvenation. Impact The study will address the…
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