Understanding why some genetic diseases show different symptoms in different people
Official title: Identifying sources of variable penetrance and expressivity in monogenic diseases at population scale
Funded at University of California Los Angeles · NIH-11060176 · Data updated 2026-11-12
This study is looking into why people with the same genetic changes can have different symptoms or sometimes none at all, and it’s for anyone interested in understanding how these differences can affect conditions caused by single gene mutations.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California Los Angeles NIH-funded |
| Lab location | 1 site (Los Angeles, United States) |
| Project start | April 1, 2024 |
| Project end | March 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $43,832 |
| NIH project number | 5F31HG013462-02 |
| Project ID | NIH-11060176 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with known monogenic variants, especially those who have experienced mild or no symptoms.
✕Less likely to help
Patients with complex polygenic diseases or those without identifiable monogenic variants may not benefit from this research.
What this research studies
This research investigates why individuals with the same genetic mutations may experience varying symptoms or none at all. By analyzing genetic data from diverse populations, the study aims to identify factors that influence the severity and presence of symptoms in monogenic diseases. The researchers will collaborate with multiple biobanks to gather extensive data, focusing on how common genetic variants interact with specific mutations. This approach could lead to a better understanding of disease mechanisms and improve patient care.
Why it matters
Potential benefit: If successful, this research could lead to more accurate predictions of disease severity and tailored treatment options for patients with monogenic diseases.
How similar studies have gone: Previous research has shown promising results in understanding genetic variants and their effects on disease expression, indicating that this approach has potential for success.
Where this research is happening
-
University of California Los Angeles
Los Angeles, United States Active
Researchers
- Principal investigator: Wei, Angela N — University of California Los Angeles
- Study coordinator: Wei, Angela N
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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.