Using advanced methods to assess the risk of rare genetic diseases
Official title: Integrative computational-experimental approaches to stratify monogenic disease risk
Funded at Brigham and Women's Hospital · NIH-10889297 · Data updated 2026-11-12
This study is looking at how rare genetic changes can affect the risk of certain diseases, like some cancers and heart problems, to help doctors better understand and treat patients with these conditions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brigham and Women's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 20, 2023 |
| Project end | August 31, 2025 |
| Funding year | 2023 |
| Award (this year) | $300,000 |
| NIH project number | 1R56HG012681-01A1 |
| Project ID | NIH-10889297 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with rare genetic variants associated with monogenic diseases, particularly those with variants classified as 'Variants of Uncertain Significance'.
✕Less likely to help
Patients without rare genetic variants or those with common genetic conditions may not benefit from this research.
What this research studies
This research aims to improve the understanding of how rare genetic variants contribute to the risk of monogenic diseases, such as certain cancers and cardiovascular disorders. By combining computational analysis with experimental methods, the project seeks to clarify the clinical significance of these variants, which are often difficult to interpret. The study will utilize large biobanks and cost-effective functional assays to evaluate thousands of genetic variants simultaneously, providing insights that could enhance patient management and treatment decisions.
Why it matters
Potential benefit: If successful, this research could lead to more accurate risk assessments for patients with rare genetic variants, improving clinical decision-making and personalized treatment options.
How similar studies have gone: Previous research has shown promise in using functional assays to assess genetic variants, indicating that this approach could yield significant insights.
Where this research is happening
-
Brigham and Women's Hospital
Boston, United States Active
Researchers
- Principal investigator: Cassa, Christopher — Brigham and Women's Hospital
- Study coordinator: Cassa, Christopher
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.