Functional testing of about 100,000 gene changes linked to inherited disorders
Molecular phenotyping of ~100,000 coding variants across Mendelian disease genes
This project looks at roughly 100,000 different changes in genes tied to inherited conditions to find which ones cause harm and which are harmless.
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 ID | NIH-11128674 on NIH RePORTER |
What this research studies
I would be looking at results from large-scale lab tests that measure how specific genetic changes affect cells and protein function across many known Mendelian disease genes. The team will run high-throughput experiments and combine those results with existing clinical databases like ClinVar to better label variants. The work is being done across a consortium of labs, using cell-based assays and computational analysis to scale to tens of thousands of variants. Over time the results will be added to public catalogs so patients and clinicians can use the information.
Who could benefit from this research
Good fit: People with a suspected inherited disorder or those who have a variant of uncertain significance (VUS) in a known Mendelian gene are most likely to benefit or contribute samples/data.
Not a fit: People without genetic testing, those with non-coding or polygenic conditions, or those whose conditions are unrelated to Mendelian genes are unlikely to benefit directly.
Why it matters
Potential benefit: If successful, this work could turn many uncertain genetic test results into clear answers that help with diagnosis, prognosis, and genetic counseling.
How similar studies have performed: Previous high-throughput functional assays have successfully clarified variants for individual genes, but applying this approach to ~100,000 variants across most Mendelian genes is much larger and relatively novel.
Where this research is happening
Boston, United States
- 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 below.