Investigating the genetics of Lymphangioleiomyomatosis (LAM)
Genetics of LAM
This study is looking at the genes that might cause Lymphangioleiomyomatosis (LAM), a rare lung disease, to help find better ways to diagnose and treat it for people living with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brigham and Women's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-10783717 on NIH RePORTER |
What this research studies
This research focuses on understanding the genetic factors contributing to Lymphangioleiomyomatosis (LAM), a rare lung disease that leads to progressive lung damage and respiratory failure. The study will explore mutations in specific genes, particularly TSC1 and TSC2, and their role in both sporadic and TSC-related LAM cases. Using advanced sequencing techniques, researchers aim to identify additional genetic mutations that may be involved in LAM, which could lead to better diagnosis and treatment options for patients. By analyzing lung tissue and blood samples, the research seeks to uncover the complexities of this condition and improve patient outcomes.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Lymphangioleiomyomatosis, particularly those with sporadic cases or those with a family history of TSC.
Not a fit: Patients with LAM who do not have genetic mutations related to TSC1 or TSC2 may not benefit directly from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic methods and targeted therapies for patients with LAM.
How similar studies have performed: Previous research has shown promising results in understanding the genetic basis of LAM, indicating that this approach may yield valuable insights.
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.