Maurano Lab
Principal Investigator: Matthew Thomas Maurano
Institution: New York University (New York, NY)
Primary Subfield: Neuroscience
Recruitment Status: ✅ Accepting PhD Students ✅ Hiring Postdocs
Research Focus
Project Abstract Genetic scans for neuropsychiatric disorders like schizophrenia have uncovered hundreds of risk loci, yet we lack both the tools and conceptual approaches to dissect mechanism at this scale. One of the most robust schizophrenia and bipolar association signals lies near a human-specific repeat expansion within intron 3 of CACNA1C gene. CACNA1C encodes the predominant L-type voltage-gated calcium channel expressed in human central nervous system neurons, and a single missense mutation is responsible for the monogenic disorder Timothy Syndrome whose presentation includes neuropsychiatric symptoms. Through careful analysis of long-read sequencing data from a broad set of populations, we have decoded the complex structure of the CACNA1C repeat and developed tools for its assessment in commonly available short-read sequence data. We propose to fine map key features of regulatory activity at the CACNA1C repeat using long-read methyltransferase accessibility profiling (Fiber-seq). We will also apply a complementary synthetic regulatory genomics approach, to systematically dissect features of repetitive DNA in terms of repeat structure, unit content, and length. Finally, we…
Active NIH Awards
- 5R01MH136353-02: Dissection of noncoding repeats in psychiatric genetics using synthetic regulatory genomics - Resubmission (2026)
- 1R21HG014313-01A1: Cross-species analysis of regulatory function using synthetic regulatory genomics (2026)
- 1R01MH136353-01A1: Dissection of noncoding repeats in psychiatric genetics using synthetic regulatory genomics - Resubmission (2025)
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