Where human genetic differences come from and how they affect health
The origin, the function and the phenotypic impact of human alleles
This project uses large human DNA datasets and new computer methods to trace how genetic changes arise and how they change traits and disease risk.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Harvard Medical School NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11180960 on NIH RePORTER |
What this research studies
We will analyze huge collections of human DNA sequences and use statistical and computer methods to trace how mutations arise and how DNA replication and repair shape them. We will build tools that predict whether specific genetic variants change molecular function and may contribute to disease. We will examine how evolution and population history allow harmful variants to persist and how many genes together shape common traits. Our goal is to better link specific DNA differences to real-world health outcomes.
Who could benefit from this research
Good fit: People with a family history of genetic conditions, those with unexplained rare variants, or anyone willing to contribute genomic data to research resources would be most relevant.
Not a fit: Patients seeking immediate treatment for a current illness or those with conditions unrelated to genetics are unlikely to see direct benefits from this grant.
Why it matters
Potential benefit: If successful, this work could make genetic testing more informative by improving how we interpret DNA variants and predict disease risk.
How similar studies have performed: Large sequencing projects and computational genetics efforts have already improved variant interpretation, but predicting functional effects remains a developing area that this work aims to advance.
Where this research is happening
Boston, United States
- Harvard Medical School — Boston, United States (Active)
Researchers
- Principal investigator: Sunyaev, Shamil — Harvard Medical School
- Study coordinator: Sunyaev, Shamil
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.