Understanding the genetic causes of rare infertility disorders
Project 1 - Deciphering the Molecular Drivers of Rare Forms of Human Infertility Using Integrative Genomic, Cellular, and Phenomic Approaches
['FUNDING_OTHER'] · MASSACHUSETTS GENERAL HOSPITAL · NIH-11124175
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
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MASSACHUSETTS GENERAL HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11124175 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with rare forms of infertility, particularly those with hypogonadotropic hypogonadism or primary ovarian insufficiency.
Not a fit: Patients with common forms of infertility that are not linked to genetic causes may not benefit from this research.
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 performed: 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
BOSTON, UNITED STATES
- MASSACHUSETTS GENERAL HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SEMINARA, STEPHANIE BETH — MASSACHUSETTS GENERAL HOSPITAL
- Study coordinator: SEMINARA, STEPHANIE BETH
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.