Tools to pinpoint tiny gene regions that carry rare ALS mutations
New computational methods to dynamically pinpointing the subregions carrying disease-associated rare variants
This project builds computer methods to find small parts of genes where rare DNA changes may raise the chance of ALS, helping people with or at risk for ALS understand causes.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Duke University NIH-funded |
| Lab location | 1 site (Durham, United States) |
| Project ID | NIH-11176316 on NIH RePORTER |
What this research studies
Researchers will use DNA sequencing data from people with ALS to develop new statistical and computational tools that search genes for small subregions enriched for rare mutations. Instead of combining all rare variants across an entire gene, the methods will scan for concentrated clusters of changes that are more likely to harm function. The team will test the approach on existing ALS genetic datasets and refine software so other scientists can use it. Over time the tools aim to point to precise gene segments that matter most for disease biology.
Who could benefit from this research
Good fit: Ideal candidates are people with ALS (or family members) who can share genetic sequencing data or biospecimens for research.
Not a fit: People without available genetic data or those seeking immediate clinical treatments are unlikely to get direct benefits from this project.
Why it matters
Potential benefit: If successful, the methods could reveal precise gene regions that drive ALS risk and guide future diagnostics, biological studies, and targeted therapies.
How similar studies have performed: Gene-level aggregation tests have helped find ALS genes before, but approaches that dynamically pinpoint small pathogenic subregions are newer and less proven.
Where this research is happening
Durham, United States
- Duke University — Durham, United States (Active)
Researchers
- Principal investigator: Xie, Jichun — Duke University
- Study coordinator: Xie, Jichun
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.