Symptom insights – 260226 Ehlers-Danlos Society
- Most participants reported multi-system involvement.
- Common symptoms the participants reported included fatigue, digestive problems, sleep issues, and headaches.
- From the data reported by participants about the symptoms they experience, the team identified 81 main symptom groups, and more than 900 less common symptoms, providing one of the most detailed pictures of hEDS/HSD to date.
Control group comparison
- To make sense of the data, researchers compared HEDGE participants’ DNA to over 200,000 genomes from the U.S. All of Us Research Program, matching each HEDGE participant with five ancestry-matched controls.
- This confirmed that the HEDGE cohort is accurate, well-defined, and reliable for genetic discovery.
What’s Next
- Rare variant analysis: Completing studies of uncommon genetic changes that may explain subsets of hEDS.
- Genotype–phenotype studies: Exploring how genetic variants relate to symptoms, to explain why people with hEDS/HSD can have very different experiences.
- Mechanistic research: Building biological models to explain how genetic variants affect connective tissue, highlighting possible treatment targets.
- Publications: The first HEDGE papers are expected in December 2025, with more to follow in stages.
Dr Eric Ronge 