Identifying treatable genetic conditions in adults using genomic information
Official title: Genome-first approach to treatable genetic conditions in adults
Funded at Massachusetts General Hospital · NIH-10997371 · Data updated 2026-11-12
This study is looking for adults who might have genetic changes that could lead to treatable disorders, even if they aren't showing any symptoms yet, so we can help catch these conditions early and improve treatment options.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | January 2, 2023 |
| Project end | December 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $232,870 |
| NIH project number | 5K08HG012811-03 |
| Project ID | NIH-10997371 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are adults who may have undiagnosed genetic conditions or are at risk for monogenic disorders.
✕Less likely to help
Patients with well-diagnosed genetic conditions or those who do not have any genetic predisposition to treatable disorders may not benefit from this research.
What this research studies
This research focuses on finding individuals with genetic variants linked to treatable genetic disorders by utilizing a hospital-based biobank. The approach involves analyzing genomic data to identify at-risk adults who may not yet show symptoms of these conditions. By collaborating with a team of experts in genomics, the project aims to enhance early detection and intervention strategies for genetic disorders. This could lead to more effective management and treatment options for patients with these conditions.
Why it matters
Potential benefit: If successful, this research could lead to earlier diagnosis and treatment of genetic disorders, improving patient outcomes and quality of life.
How similar studies have gone: Previous research has shown success in using genomic approaches to identify treatable genetic conditions, indicating that this method has potential for impactful outcomes.
Where this research is happening
-
Massachusetts General Hospital
Boston, United States Active
Researchers
- Principal investigator: Gold, Nina Beth — Massachusetts General Hospital
- Study coordinator: Gold, Nina Beth
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.