Genetically guided PCOS subtypes to improve diagnosis and risk stratification
Official title: Genetically Validated PCOS Subtypes: Data-Driven Clinical Translation for Improved Diagnosis and Comprehensive Risk Stratification
Funded at Icahn School of Medicine at Mount Sinai · NIH-11298558 · Data updated 2026-11-12
Aims to use genetic patterns to identify PCOS subtypes so doctors can diagnose it more precisely and tailor risk predictions for each patient.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | August 1, 2020 |
| Project end | May 31, 2031 |
| Funding year | 2026 |
| Award (this year) | $680,661 |
| NIH project number | 2R01HD100812-06 |
| Project ID | NIH-11298558 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals diagnosed with PCOS, especially women across diverse ethnic backgrounds, may be eligible for subtype-guided diagnostic and management approaches.
✕Less likely to help
Patients whose PCOS does not fit the identified subtypes or who do not participate in subtype-specific testing may see little direct benefit.
What this research studies
This project looks at polycystic ovary syndrome (PCOS), a common hormone disorder that also raises cardiometabolic risk. By analyzing how genes interact with environment, researchers have found distinct PCOS subtypes with different genetic and metabolic features. They use data-driven clustering and genetic risk scores to separate these subtypes and test how well they line up with biology across diverse populations. The work plans to translate these findings into more accurate diagnosis and personalized management strategies for patients. The grant supports ongoing research at the Icahn School of Medicine at Mount Sinai under the leadership of Dr. Andrea Dunaif.
Why it matters
Potential benefit: If successful, patients could receive more accurate PCOS diagnoses and personalized treatment plans that target their specific subtype.
How similar studies have gone: Earlier analyses have identified distinct PCOS subtypes and validated them with alternate methods, supporting continued development.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Dunaif, Andrea — Icahn School of Medicine at Mount Sinai
- Study coordinator: Dunaif, Andrea
Related research
Other NIH-funded projects on the same topics.
-
Genetically Validated PCOS Subtypes for Better Diagnosis and Risk Stratification
Aimed at women with polycystic ovary syndrome (PCOS), this project uses genetic data and patient characteristics to define distinct PCOS subtypes and improve how we diagnose and estimate risk.
-
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.
-
Using inositol to improve reproductive and metabolic health in women with PCOS
This study is looking at how taking inositol might help women with polycystic ovary syndrome (PCOS) by checking its effects on hormone levels and overall health over three months.
-
Understanding how dopamine affects reproductive hormone release in women with PCOS
This study is looking at how certain brain cells that control hormone release can help women with reproductive issues like PCOS and hypothalamic amenorrhea, and it’s testing if a compound that affects these cells can help balance hormone levels.
-
Investigating how genetic variations in gonadotropin pathways affect PCOS
This study is looking at how our genes might play a role in Polycystic Ovary Syndrome (PCOS) to help find better treatments for women dealing with this condition.
-
Examining how physical activity affects the risk of PCOS in young girls
This study is looking at how physical activity can help girls aged 8 to 10 who are at risk for Polycystic Ovary Syndrome (PCOS) by tracking their insulin and hormone levels while they try out a special exercise program to see if it can improve their health.
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.