
Last weekend, in New York, USA, The Ehlers-Danlos Society had a very successful meeting on progress on the HEDGE (Hypermobile Ehlers-Danlos Genetic Evaluation) Study.
We welcomed the members of the HEDGE Study analysis team who traveled from Australia, the Czech Republic, the United Kingdom, and the USA. The team is currently analyzing 1021 whole-genome sequences from individuals who have hypermobile Ehlers-Danlos syndrome (hEDS) by the 2017 clinical diagnostic criteria.
hEDS remains the only type of Ehlers-Danlos syndrome (EDS) that does not have known genetic markers and diagnosis cannot be confirmed through genetic testing. Many people with hEDS, therefore, experience delays in diagnosis, can be misdiagnosed and can experience delays in accessing suitable treatments.
The HEDGE study is a truly global collaborative effort with participants from 86 countries. The HEDGE analysis team hopes to complete their analysis of the DNA samples in late 2024, with the publication of their findings expected in 2025.
We are so thankful to members of the community who have taken part. As the findings from HEDGE are part of a research study and not a diagnostic test, participants will not hear any feedback or results until the end of the analysis, expected in late 2024. However, any participants found to have a genetic marker that suggests they have a different type of EDS or another heritable connective tissue disorder will be contacted directly. If the study identifies genetic variants that seem to be responsible for hEDS, we will notify the participants who carry have any of those variants and provide additional information.
For more details about the return of results, participants should refer to the consent form. If participants do not hear from us it will be because we have not identified any relevant genetic variants in their case. Please stay updated on HEDGE research by visiting our website, joining our CONNECT newsletter, and following us on social media.