R-loops and how they change gene activity and genome organization in brain cells
R-loop functions in neuronal gene expression and genome organization
This project aims to learn how RNA–DNA structures called R-loops change gene activity and the 3D layout of DNA in brain cells related to ADNP syndrome and autism.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Wistar Institute NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11308745 on NIH RePORTER |
What this research studies
Researchers are studying R-loops, places where RNA sticks to DNA, and how they alter the three-dimensional organization of the genome in neurons. They will examine how R-loops affect binding of the genome organizer CTCF and long-range DNA interactions, and how the brain protein ADNP helps resolve R-loops. Experiments will use molecular and cellular approaches and may involve patient-derived models relevant to ADNP syndrome and autism. The goal is to connect these basic mechanisms to how gene control goes wrong in certain neurodevelopmental disorders.
Who could benefit from this research
Good fit: People with ADNP syndrome, individuals with related autism spectrum diagnoses, or families willing to contribute clinical information or biological samples would be most relevant to this research.
Not a fit: Patients without neurodevelopmental disorders or those seeking immediate treatment changes are unlikely to receive direct clinical benefit from this basic laboratory research.
Why it matters
Potential benefit: If successful, this work could point to new molecular targets for diagnostics or therapies for ADNP syndrome and related autism conditions.
How similar studies have performed: Earlier studies have linked R-loops to gene regulation and DNA damage, but moving from these discoveries to clinical applications is still early and largely unproven.
Where this research is happening
Philadelphia, United States
- Wistar Institute — Philadelphia, United States (Active)
Researchers
- Principal investigator: Sarma, Kavitha — Wistar Institute
- Study coordinator: Sarma, Kavitha
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.