Genetic clues to PCOS: how genes shape a common women's health condition
Official title: Genetic Dissection of the Pathophysiology of Polycystic Ovary Syndrome
Funded at Boston Children's Hospital · NIH-11402645 · Data updated 2026-11-12
A doctor-scientist team at Boston Children’s Hospital is studying how genetic factors contribute to polycystic ovary syndrome (PCOS) across women, men, and children to understand the root causes.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 1, 2023 |
| Project end | August 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $167,940 |
| NIH project number | 5K08HD110723-04 |
| Project ID | NIH-11402645 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with PCOS or those at risk due to genetic factors, including adult women and potentially family members across age groups.
✕Less likely to help
People without PCOS or without genetic risk factors may not directly benefit from this research.
What this research studies
This project uses recent genetic findings to explore how inherited variants influence PCOS and related metabolic and reproductive functions in people of different ages and sexes. The research will connect genetic risk with how the body regulates hormones, insulin, weight, and energy, aiming to map pathways that lead to PCOS symptoms. By examining data from multiple groups, including potential studies in women, men, and children, the team hopes to reveal shared and distinct biological routes behind PCOS. The goal is to move beyond managing symptoms toward identifying underlying mechanisms that could guide future therapies.
Why it matters
Potential benefit: If successful, this work could reveal targets for new treatments that address the root causes of PCOS and improve metabolic and reproductive health for many patients.
How similar studies have gone: Previous genetic studies have identified risk loci; this project builds on that by linking genetic risk to functional pathways across groups, which is a promising but complex area.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Zhu, Jia — Boston Children's Hospital
- Study coordinator: Zhu, Jia
Related research
Other NIH-funded projects on the same topics.
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SMAD5 and PCOS/PMOS: a new genetic clue to infertility
A research project at Baylor College of Medicine is studying a genetic variant in SMAD5 that may cause a form of PCOS/PMOS and could lead to new ways to diagnose or treat infertility.
-
TLR4 blocker for improving fertility in PCOS
A promising, already-approved drug (disulfiram) will be tested to see if it can reduce inflammation and improve ovulation in women with PCOS.
-
Semaglutide to help restore ovulation in youth and adults with PCOS
A study tests an oral GLP-1 receptor agonist (semaglutide) to improve ovulation and hormonal balance in people with polycystic ovary syndrome (PCOS).
-
Understanding how PCOS develops during adolescence
This grant looks at how polycystic ovary syndrome begins in teenagers and what early signs help doctors diagnose it accurately.
-
AI-powered ultrasound tool to help diagnose PCOS
A new AI-based tool uses ultrasound images to help doctors reliably identify polycystic ovary syndrome (PCOS) in reproductive-age women.
-
Resistant starch to help heart and gut health in PCOS women
A study tests whether resistant starch can improve heart and metabolic health and the gut bacteria in women with PCOS who have high androgens.
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.