Molecular profiling of about 100,000 genetic variants linked to Mendelian diseases
Official title: Molecular phenotyping of ~100,000 coding variants across Mendelian disease genes
Funded at Dana-Farber Cancer Inst · NIH-11531869 · Data updated 2026-11-12
Scientists will study how about 100,000 genetic variants tied to Mendelian diseases affect cells, helping families understand how these changes may influence health.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Dana-Farber Cancer Inst NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | August 23, 2021 |
| Project end | May 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $1,573,286 |
| NIH project number | 3UM1HG011989-05S1 |
| Project ID | NIH-11531869 on NIH RePORTER |
Who could benefit from this research
✓Could help
People whose genetic testing has identified missense variants in Mendelian disease genes, especially those with variants of uncertain significance (VUS).
✕Less likely to help
Patients without or unaffected by these specific Mendelian variants may not directly benefit.
What this research studies
This project aims to map how thousands of coding variants function in human cells to uncover patterns that relate DNA changes to disease. Researchers will use high-throughput methods to characterize variants found in ClinVar and other databases, building a large functional map. The work focuses on how these variants impact gene function, cell survival, and morphology to explain genotype-to-phenotype links. Results could guide future diagnostic interpretations and research into inherited disorders.
Why it matters
Potential benefit: Could improve interpretation of genetic test results and accelerate understanding of inherited diseases for patients and clinicians.
How similar studies have gone: Previous functional studies of select variants have shown that high-throughput approaches can reveal meaningful genotype-phenotype relationships; this project scales up that approach.
Where this research is happening
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Dana-Farber Cancer Inst
Boston, United States Active
Researchers
- Principal investigator: Vidal, Marc — Dana-Farber Cancer Inst
- Study coordinator: Vidal, Marc
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.