Understanding how R-loops affect gene expression and brain development in children
Official title: R-loop functions in neuronal gene expression and genome organization
Funded at Wistar Institute · NIH-11039992 · Data updated 2026-11-12
This study is looking at how certain structures in our DNA, called R-loops, might affect gene activity and brain development, especially in kids with neurodevelopmental disorders like ADNP syndrome, to help us understand these conditions better and find new ways to help.
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 start | March 1, 2024 |
| Project end | February 28, 2029 |
| Funding year | 2025 |
| Award (this year) | $464,093 |
| NIH project number | 5R01NS135217-02 |
| Project ID | NIH-11039992 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children aged 0-11 years who are diagnosed with neurodevelopmental disorders, particularly those related to ADNP syndrome.
✕Less likely to help
Patients who do not have neurodevelopmental disorders or are older than 11 years may not benefit from this research.
What this research studies
This research investigates the role of R-loops, which are RNA-containing structures in DNA, in regulating gene expression and their impact on brain development, particularly in children with neurodevelopmental disorders like ADNP syndrome. The study aims to uncover how the accumulation of R-loops can lead to changes in gene expression and contribute to conditions such as autism. By examining the interactions between R-loops and specific proteins involved in chromatin architecture, the research seeks to provide insights into the underlying mechanisms of these disorders. Patients may benefit from a better understanding of their condition and potential new therapeutic targets.
Why it matters
Potential benefit: If successful, this research could lead to new insights and treatments for neurodevelopmental disorders in children.
How similar studies have gone: While the role of R-loops in gene expression is a relatively novel area of investigation, preliminary findings suggest that similar approaches have shown promise in understanding other genetic and neurodevelopmental conditions.
Where this research is happening
-
Wistar Institute
Philadelphia, United States Active
Researchers
- Principal investigator: Sarma, Kavitha — Wistar Institute
- Study coordinator: Sarma, Kavitha
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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.