Published: 28/10/2025 Tags: The Ehlers-Danlos Society News

Hedge Study Update

The Hypermobile Ehlers-Danlos Genetic Evaluation (HEDGE) Study continues to advance understanding of hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorder (HSD).

The HEDGE team expects to share its first publications in late 2025 or early 2026, with additional publications to follow as further analyses are completed.

Research takes time, and publication timelines may shift as analyses and peer review are completed. The study is ongoing, and participants will be the first to hear about new results as they become available.

Scroll below for the latest update from the study and key findings.

The HEDGE study team has sequenced and analyzed DNA from 1,000 people with hEDS and 45 people with HSD. DNA samples were tested for other types of EDS and related connective tissue disorders. Researchers looked across the entire genome for markers that might be linked to hEDS and HSD.
Key Findings Only a few participants had their diagnosis of hEDS or HSD reclassified based on genetic testing. This means more than 99% of participants were correctly diagnosed with hEDS or HSD using the current clinical criteria.
Key Findings No single gene has yet been identified as the cause of hEDS or HSD. This means these conditions are likely not caused by a single gene and may involve a combination of genetic and biological
Gene Spotlight: MTHFR This gene is widely discussed in health communities, but HEDGE results show no connection between MTHFR and hEDS or HSD. At this time, MTHFR is not a factor in diagnosing or explaining these conditions.
Gene Spotlight: TNXB This gene is important for connective tissue structure. Certain rare TNXB variants were found 3–5x more often in people with hEDS, but they occur in only about 1% of participants. This suggests TNXB may play a role in a small number of cases but is not the main cause of hEDS or HSD.
Gene Spotlight: TNXB This gene is important for connective tissue structure. Certain rare TNXB variants were found 3–5x more often in people with hEDS, but they occur in only about 1% of participants. This suggests TNXB may play a role in a small number of cases but is not the main cause of hEDS or HSD.
What's Next? Researchers are now studying rare genetic variants and exploring how specific genetic patterns relate to symptoms. This next phase may help explain why hEDS and HSD vary so widely between individuals. For now, diagnosis remains based on clinical criteria because there is still no diagnostic test for hEDS or HSD.
What’s Next? The first HEDGE Study publications are expected in late 2025 or early 2026. Additional results will be shared as analyses continue. Research is ongoing, and participants will receive updates as new findings become available.

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