How X and Y chromosomes shape health from early development
Official title: Developmental constraints shaping human sex chromosomes and escape from X inactivation
Funded at University of Connecticut Sch of Med/dnt · NIH-11387647 · Data updated 2026-11-12
Scientists are studying how the X and Y chromosomes influence pregnancy and health, especially when there is only one copy of a chromosome or when certain X-linked genes escape inactivation.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Connecticut Sch of Med/dnt NIH-funded |
| Lab location | 1 site (Farmington, United States) |
| Project start | August 1, 2024 |
| Project end | July 31, 2029 |
| Funding year | 2026 |
| Award (this year) | $449,550 |
| NIH project number | 5R35GM153326-03 |
| Project ID | NIH-11387647 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients affected by monosomy-X conditions, Turner syndrome, or other X-linked dosage-related health issues.
✕Less likely to help
Individuals without X chromosome dosage-related conditions may see indirect benefits through broader insights into human development.
What this research studies
This grant explores how genes on the X chromosome that escape inactivation affect development and disease, using human-like monosomy-X models to understand why some pregnancies and later health issues occur. Researchers will compare monosomy-X with normal female and male cells to see how gene dosage changes impact heart and vascular development, and overall health. The work could reveal why sex differences emerge in certain diseases and how X-linked genetics contribute to these outcomes.
Why it matters
Potential benefit: Findings could lead to better understanding of sex-specific risks in pregnancy and congenital diseases, guiding future therapies.
How similar studies have gone: Previous work in model systems suggests dosage-sensitive effects of X-linked genes; this study extends that to human-like monosomy-X models and differs in its direct human relevance.
Where this research is happening
-
University of Connecticut Sch of Med/dnt
Farmington, United States Active
Researchers
- Principal investigator: Pinter, Stefan F. — University of Connecticut Sch of Med/dnt
- Study coordinator: Pinter, Stefan 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.