This Project Grant award from the National Institute of Mental Health (NIMH) under the Mental Health Research Grants program (CFDA 93.242) provides $714,615 to New York University School of Medicine to support a 4-year research project. The project aims to dissect the regulatory mechanisms of a human-specific repeat expansion within the CACNA1C gene, which has been associated with schizophrenia and bipolar disorder. Key efforts include fine-mapping regulatory activity at the CACNA1C repeat using long-read sequencing approaches, as well as applying a synthetic regulatory genomics approach to systematically study features of repetitive DNA sequences that may contribute to psychiatric disease. The research team will also extend this work to investigate other potentially relevant repeat regions genome-wide and perform functional screening in cell culture models. This study seeks to unlock a previously intractable genetic locus as a model for understanding how transcriptional dysregulation leads to neuropsychiatric disorders.
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