Using genomic data and protein structures to better understand genetic variations
Official title: Integrating genomic data and protein structures to improve measures of selective constraint
Funded at Massachusetts General Hospital · NIH-11044157 · Data updated 2026-11-12
This study is looking at how changes in our genes can affect health by combining a lot of genetic data with information about how proteins are structured, which could lead to better genetic testing and more personalized treatments for patients.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | March 1, 2024 |
| Project end | December 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $828,512 |
| NIH project number | 5R01HG012867-02 |
| Project ID | NIH-11044157 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with known genetic variations or those at risk for genetic disorders.
✕Less likely to help
Patients without any genetic variations or those not affected by genetic disorders may not receive direct benefits from this research.
What this research studies
This research aims to enhance the interpretation of genetic variations by integrating large-scale genomic datasets with protein structure information. By analyzing over 700,000 exomes initially, and expanding to over 3 million, the project seeks to identify critical genetic sequences that are intolerant to changes. This approach will help improve the understanding of how specific genetic variations affect biological processes and disease. Patients may benefit from more accurate genetic testing and personalized treatment options based on these findings.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic accuracy and personalized treatment strategies for patients with genetic disorders.
How similar studies have gone: Previous research has shown that integrating genomic data with functional and structural information can significantly enhance our understanding of genetic variations and their implications.
Where this research is happening
-
Massachusetts General Hospital
Boston, United States Active
Researchers
- Principal investigator: Samocha, Kaitlin Elisabeth — Massachusetts General Hospital
- Study coordinator: Samocha, Kaitlin Elisabeth
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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.