Exploring the link between genetic mutations and male infertility
Official title: GEMS: Genomic approach to connecting Elevated germline Mutation rates with male infertility and Somatic health
Funded at University of Utah · NIH-11120851 · Data updated 2026-11-12
This study is looking at how higher rates of genetic changes in men might be linked to infertility and other health problems, and it involves men with varying fertility levels who will provide samples to help us understand these connections better.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Utah NIH-funded |
| Lab location | 1 site (Salt Lake City, United States) |
| Project start | September 1, 2021 |
| Project end | May 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $762,315 |
| NIH project number | 5R01HD106112-05 |
| Project ID | NIH-11120851 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are men experiencing infertility, particularly those with severe oligozoospermia or azoospermia.
✕Less likely to help
Patients who are fertile and do not have any issues related to infertility are unlikely to benefit from this research.
What this research studies
This research investigates how elevated germline mutation rates in men may be connected to male infertility and overall health issues. By analyzing genetic mutations in sperm and somatic tissues, the study aims to understand the relationship between infertility and increased risks of various cancers and other health conditions. The research will involve a unique population of men with different levels of fertility, allowing for a detailed examination of genetic factors that may contribute to their health outcomes. Patients may be asked to provide samples for genetic analysis to help uncover these connections.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential treatments for male infertility and associated health risks.
How similar studies have gone: Previous research has shown associations between genetic mutations and health risks in infertile men, suggesting that this approach has potential for meaningful insights.
Where this research is happening
-
University of Utah
Salt Lake City, United States Active
Researchers
- Principal investigator: Hotaling, James — University of Utah
- Study coordinator: Hotaling, James
Related research
Other NIH-funded projects on the same topics.
-
Genetics of Male Infertility: Accelerating Discovery and Clinical Impact
This grant aims to uncover the genetic causes of male infertility (azoospermia) to improve diagnosis and pave the way for personalized treatments.
-
Gut soy and male fertility: how the gut microbiome may affect testosterone and sperm health
This grant explores how soy foods interact with the gut microbiome to influence male reproductive health, especially testosterone levels and sperm quality, in adults.
-
How heat harms sperm chromosome structures linked to male infertility
This work looks at how warmer-than-normal temperatures change the protein structures that organize chromosomes during sperm production, which could help men with heat-related infertility.
-
Understanding how temperature affects male fertility through chromosome structures
This study looks at how heat affects sperm production in males, using tiny worms to understand why higher temperatures might lead to infertility and possibly increase cancer risk, helping us learn more about male reproductive health.
-
Finding genes behind male infertility
This project uses long-read DNA sequencing to find genes and mutations that may cause infertility in men.
-
Genetic causes of male infertility and azoospermia
This project aims to find gene changes that cause nonobstructive azoospermia in men to improve diagnosis and guide future treatments.
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.