Understanding noncoding DNA repeats linked to bipolar disorder and autism
Dissection of noncoding repeats in psychiatric genetics using synthetic regulatory genomics - Resubmission
Researchers are decoding how repeated stretches of DNA near brain genes like CACNA1C might change gene activity in people with bipolar disorder or autism.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | New York University School of Medicine NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11238969 on NIH RePORTER |
What this research studies
From a patient perspective, the team is reading long pieces of human DNA to map a complex repeated sequence near the CACNA1C gene that has been linked to psychiatric conditions. They will use a technique (Fiber-seq) to see how these repeats affect DNA accessibility and chemical marks, and then build synthetic versions of the repeats to test which parts change gene activity. The lab will edit and screen candidate repeats in cultured human cells to see functional effects and will extend the approach to other repeat regions across the genome. The work relies on human genomic data and lab experiments rather than offering direct treatments to participants.
Who could benefit from this research
Good fit: People with bipolar disorder, autism, or related neuropsychiatric conditions — especially those willing to share genetic data or DNA samples — would be the most relevant group.
Not a fit: Patients seeking immediate clinical treatments or symptom relief are unlikely to benefit directly because the project is laboratory-focused and aimed at basic disease mechanisms.
Why it matters
Potential benefit: If successful, this work could reveal how specific DNA repeats alter brain gene activity and point to new targets for future treatments for bipolar disorder and autism.
How similar studies have performed: Previous genetic studies have tied CACNA1C to psychiatric risk and long-read sequencing has helped decode repeats, but systematically testing repeat function with synthetic regulatory genomics is a relatively new approach.
Where this research is happening
New York, United States
- New York University School of Medicine — New York, United States (Active)
Researchers
- Principal investigator: Maurano, Matthew Thomas — New York University School of Medicine
- Study coordinator: Maurano, Matthew Thomas
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.