Understanding Hamartoma Syndromes
Molecular Pathogenesis of the Hamartoma Syndromes
This research aims to understand the genetic and cellular changes that lead to hamartoma syndromes, including Bannayan Syndrome and Bourneville Disease.
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-11168731 on NIH RePORTER |
What this research studies
Hamartoma syndromes are a group of conditions that cause non-cancerous growths in different parts of the body. This project looks closely at the genes and proteins involved in these syndromes, like Bannayan Syndrome and Bourneville Disease, to uncover how they develop. By studying the molecular details, we hope to learn why these growths form and how they affect the body. This deeper understanding is crucial for finding new ways to help people living with these rare conditions.
Who could benefit from this research
Good fit: Individuals diagnosed with hamartoma syndromes, such as Bannayan Syndrome or Bourneville Disease, particularly adults, may find this research relevant.
Not a fit: Patients without a diagnosis of a hamartoma syndrome would likely not directly benefit from this specific molecular research.
Why it matters
Potential benefit: If successful, this work could lead to new ways to diagnose, treat, or even prevent the development of hamartoma syndromes.
How similar studies have performed: While the specific molecular mechanisms are still being uncovered, other basic science efforts have successfully identified genetic causes for various diseases, paving the way for targeted therapies.
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.