Understanding and targeting genes that cause tumors in Tuberous Sclerosis Complex
Project 3: Identifying transcriptional driver genes and targeting transcription in TSC
This project aims to understand how certain genes cause tumors in Tuberous Sclerosis Complex (TSC) and find new ways to stop them.
Quick facts
| Grant type | P01 program project |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brigham and Women's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11168743 on NIH RePORTER |
What this research studies
This research explores the specific genetic signals that lead to tumor growth in people with Tuberous Sclerosis Complex (TSC), especially kidney tumors called angiomyolipomas. We are looking closely at how certain "driver" genes, like MITF, control this growth. By using advanced techniques with human stem cells and detailed genetic mapping, we hope to uncover the exact steps that make these tumors develop. This work also explores new pathways, like JUN-AXL, that might be targeted with new medications.
Who could benefit from this research
Good fit: This foundational research is for patients with Tuberous Sclerosis Complex, particularly those with angiomyolipomas, who might benefit from future targeted therapies.
Not a fit: Patients without Tuberous Sclerosis Complex or related conditions would not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this research could lead to new medications that specifically target the genetic causes of tumors in Tuberous Sclerosis Complex, offering more effective treatments for patients.
How similar studies have performed: Previous work by this team has already shown that gene activity (transcription) is crucial for TSC tumors, and they have identified MITF as a key driver for angiomyolipoma development.
Where this research is happening
Boston, United States
- Brigham and Women's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Kwiatkowski, David J. — Brigham and Women's Hospital
- Study coordinator: Kwiatkowski, David J.
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.