Investigating the effects of new genetic mutations on health
The fitness effects of de novo structural variants
This study is looking at how certain changes in our genes can impact health and fitness, and it aims to help people understand and treat genetic conditions better.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Minnesota NIH-funded |
| Lab location | 1 site (Minneapolis, United States) |
| Project ID | NIH-11015018 on NIH RePORTER |
What this research studies
This research focuses on understanding how new structural variants in genes affect health and fitness in humans and nonhuman primates. Using advanced sequencing technologies and machine learning, the study aims to identify which types of genetic mutations are likely to cause diseases. By analyzing large-scale genomic data, the research will help develop resources that can guide future medical research on these mutations. Patients may benefit from insights that could lead to better understanding and treatment of genetic conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with known genetic mutations or those diagnosed with conditions related to structural variants, such as autism spectrum disorder.
Not a fit: Patients without any genetic mutations or those with conditions unrelated to structural variants may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved identification of genetic mutations that contribute to diseases, enhancing patient care and treatment options.
How similar studies have performed: Previous research has shown promise in using genomic sequencing to identify pathogenic mutations, indicating that this approach has potential for success.
Where this research is happening
Minneapolis, United States
- University of Minnesota — Minneapolis, United States (Active)
Researchers
- Principal investigator: Hsieh, Pinghsun — University of Minnesota
- Study coordinator: Hsieh, Pinghsun
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.