Understanding how sex chromosomes affect human health and development
Official title: Developmental constraints shaping human sex chromosomes and escape from X inactivation
Funded at University of Connecticut Sch of Med/dnt · NIH-10842881 · Data updated 2026-11-12
This study is looking at how certain genes on the X chromosome behave differently in men and women, which could help us understand health issues like miscarriage and Turner syndrome, with the hope of finding better treatments for these conditions.
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 | 2024 |
| Award (this year) | $449,550 |
| NIH project number | 1R35GM153326-01 |
| Project ID | NIH-10842881 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with Turner syndrome or those experiencing recurrent miscarriages.
✕Less likely to help
Patients with conditions unrelated to sex chromosome abnormalities may not receive direct benefits from this research.
What this research studies
This research investigates the differences in gene expression between male and female humans, focusing on how certain genes on the X chromosome can escape a process called X chromosome inactivation. By studying these 'escapee' genes, the research aims to uncover their roles in health issues such as miscarriage and conditions like Turner syndrome. The approach involves creating specific genetic models to better understand the implications of these genes on development and disease. Patients may benefit from insights that could lead to improved treatments or preventive measures for sex-related health conditions.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and management of diseases that disproportionately affect women, such as Turner syndrome.
How similar studies have gone: Previous research has shown promising results in understanding sex chromosome-related health issues, but this specific approach is relatively novel.
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.
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.