Understanding the genetic causes of hypermobile Ehlers Danlos Syndrome
Official title: Genetic and Molecular Mechanisms of hypermobile Ehlers Danlos Syndrome
Funded at Medical University of South Carolina · NIH-11015776 · Data updated 2026-11-12
This study is looking into the genes and proteins that might cause hypermobile Ehlers Danlos Syndrome (hEDS), a condition that affects your joints and overall health, to help improve how it's diagnosed and treated for people living with it.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Medical University of South Carolina NIH-funded |
| Lab location | 1 site (Charleston, United States) |
| Project start | February 1, 2024 |
| Project end | January 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $77,284 |
| NIH project number | 5F32AI181339-02 |
| Project ID | NIH-11015776 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with hypermobile Ehlers Danlos Syndrome or those exhibiting symptoms consistent with the condition.
✕Less likely to help
Patients with other types of Ehlers Danlos Syndrome or unrelated connective tissue disorders may not benefit from this research.
What this research studies
This research investigates the genetic and molecular mechanisms behind hypermobile Ehlers Danlos Syndrome (hEDS), a connective tissue disorder that affects joint mobility and can lead to various health issues. The study aims to identify specific genes and proteins involved in the condition, which could help clarify the underlying causes of hEDS. By examining how these genetic factors influence collagen production and the role of immune cells in tissue structure, the research seeks to improve diagnosis and treatment options for patients. Ultimately, this work could lead to better management strategies for those suffering from hEDS.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic methods and targeted treatments for patients with hypermobile Ehlers Danlos Syndrome.
How similar studies have gone: Previous research has shown promising results in understanding genetic factors in connective tissue disorders, suggesting potential for success in this area.
Where this research is happening
-
Medical University of South Carolina
Charleston, United States Active
Researchers
- Principal investigator: Gensemer, Cortney Anne — Medical University of South Carolina
- Study coordinator: Gensemer, Cortney Anne
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.