Understanding the genetic causes of rare infertility disorders
Official title: Project 1 - Deciphering the Molecular Drivers of Rare Forms of Human Infertility Using Integrative Genomic, Cellular, and Phenomic Approaches
Funded at Massachusetts General Hospital · NIH-11124175 · Data updated 2026-11-12
This study is looking into the genetic causes of certain rare infertility issues to help improve diagnosis and treatment options for people facing these challenges.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | August 10, 2021 |
| Project end | March 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $400,944 |
| NIH project number | 5P50HD104224-05 |
| Project ID | NIH-11124175 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with rare forms of infertility, particularly those with hypogonadotropic hypogonadism or primary ovarian insufficiency.
✕Less likely to help
Patients with common forms of infertility that are not linked to genetic causes may not benefit from this research.
What this research studies
This research investigates the biological mechanisms behind rare forms of human infertility by utilizing advanced genomic, transcriptomic, and phenomic techniques. It focuses on specific conditions that lead to infertility, such as hypogonadotropic and hypergonadotropic disorders, and aims to identify the genetic variations that contribute to these conditions. By analyzing diverse patient cohorts from the US and Saudi Arabia, the research seeks to uncover the genetic architecture and regulatory pathways involved in infertility, which could lead to better diagnostic and treatment options.
Why it matters
Potential benefit: If successful, this research could provide insights that lead to improved diagnosis and treatment options for individuals facing infertility.
How similar studies have gone: Previous research has shown success in using genomic approaches to understand infertility, indicating that this methodology has potential for impactful findings.
Where this research is happening
-
Massachusetts General Hospital
Boston, United States Active
Researchers
- Principal investigator: Seminara, Stephanie Beth — Massachusetts General Hospital
- Study coordinator: Seminara, Stephanie Beth
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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.