Improving genetic diagnosis for male infertility
Official title: Project I
Funded at Magee-Women's Res Inst and Foundation · NIH-11194427 · Data updated 2026-11-12
This project uses whole-genome sequencing and new analysis methods to find genetic causes of unexplained male infertility so more men can get clear diagnoses.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Magee-Women's Res Inst and Foundation NIH-funded |
| Lab location | 1 site (Pittsburgh, UNITED STATES) |
| Project start | September 1, 2019 |
| Project end | June 30, 2028 |
| Funding year | 2025 |
| Award (this year) | $690,352 |
| NIH project number | 5P50HD096723-07 |
| Project ID | NIH-11194427 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adult men (age 21+) with unexplained infertility who have not yet received a genetic diagnosis or who previously had limited genetic testing are the most likely candidates.
✕Less likely to help
People whose infertility is clearly due to non-genetic or known causes, or those without available DNA samples, are unlikely to benefit directly from this work.
What this research studies
You would be joining a project that moves from older gene tests to whole-genome sequencing to look for genetic changes that were missed before. The team will search for harder-to-detect variant types and study genes involved in testis development, as well as genetic patterns like dominant or digenic causes. They will apply these methods to an existing database of over 1,600 men with prior sequencing and to new samples from patients seen at participating clinics. The goal is to increase the number of men who receive a genetic explanation for their infertility and make those findings useful in clinical care.
Why it matters
Potential benefit: If successful, more men with unexplained infertility could receive a definitive genetic diagnosis that informs treatment, family planning, and genetic counseling.
How similar studies have gone: Prior whole-exome sequencing work found likely single-gene causes in about 20% of unexplained male infertility cases, and this project builds on those promising results while expanding to whole-genome methods.
Where this research is happening
-
Magee-Women's Res Inst and Foundation
Pittsburgh, United States Active
Researchers
- Principal investigator: Conrad, Donald F. — Magee-Women's Res Inst and Foundation
- Study coordinator: Conrad, Donald F.
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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.