Understanding how genetic mutations occur during reproduction
Official title: Germline Mutagenesis at Recombination Hotspots
Funded at University of Michigan at Ann Arbor · NIH-11018102 · Data updated 2026-11-12
This study is looking into how certain rare genetic changes happen when reproductive cells are formed, especially when a specific protein is missing, and it aims to help people understand their genetic risks and find ways to improve health.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project start | February 1, 2025 |
| Project end | January 31, 2030 |
| Funding year | 2025 |
| Award (this year) | $380,495 |
| NIH project number | 1R35GM157077-01 |
| Project ID | NIH-11018102 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with a family history of genetic disorders or those diagnosed with conditions related to structural variants.
✕Less likely to help
Patients with no known genetic disorders or those whose conditions are unrelated to germline mutations may not benefit from this research.
What this research studies
This research investigates the origins of rare genetic mutations that can impact human health, particularly focusing on structural variants that arise during the formation of reproductive cells. The study examines how DNA breaks during meiosis can lead to these mutations, especially in the absence of a specific protein called ATM kinase. By exploring the mechanisms behind these mutations, the research aims to uncover how they can affect genome integrity and contribute to various health conditions. Patients may benefit from insights gained about genetic risks and potential interventions.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and management of genetic disorders linked to structural mutations.
How similar studies have gone: Previous research has shown success in understanding genetic mutations through similar methodologies, indicating a promising avenue for further exploration.
Where this research is happening
-
University of Michigan at Ann Arbor
Ann Arbor, United States Active
Researchers
- Principal investigator: Lukaszewicz, Agnieszka — University of Michigan at Ann Arbor
- Study coordinator: Lukaszewicz, Agnieszka
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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.