Understanding ADNP and its role in cell development and disease
ADNP mechanisms in R-loop regulation during differentiation
This project explores how a protein called ADNP helps control cell development, aiming to understand its connection to certain developmental disorders and cancers.
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-11145648 on NIH RePORTER |
What this research studies
Our bodies' cells contain structures called chromatin, which can sometimes have problems that lead to diseases. One such problem involves "R-loops," which are special structures within chromatin that are often out of balance in developmental disorders and cancers. We are looking at a protein called ADNP, which is important for brain development and is linked to a condition called ADNP syndrome. This research aims to uncover how ADNP helps manage R-loops and how its malfunction might contribute to these health issues. By understanding these basic mechanisms, we hope to find new ways to address these diseases.
Who could benefit from this research
Good fit: Patients with developmental disorders, ADNP syndrome, or certain cancers might eventually benefit from the knowledge gained from this foundational research.
Not a fit: Patients seeking immediate treatment options would not directly benefit from this basic science project.
Why it matters
Potential benefit: If successful, this work could reveal fundamental mechanisms of disease, potentially leading to new targets for therapies for ADNP syndrome, other developmental disorders, and cancers.
How similar studies have performed: This research explores a novel role for ADNP in R-loop regulation, building on preliminary data but representing a new direction for understanding these disease mechanisms.
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.