Published: 25/04/2023 Tags: The Ehlers-Danlos Society News

April 25 is World DNA Day

The Ehlers-Danlos syndromes (EDS) are a group of 13 heritable connective tissue disorders. The conditions are caused by genetic changes that affect connective tissue.  

The genetic cause(s) of the most common type of EDS, hypermobile Ehlers-Danlos syndrome (hEDS), have not yet been identified, so there is currently no genetic test available to diagnose hEDS. All other types of EDS can be diagnosed through genetic testing. 

In 2018, The Ehlers-Danlos Society launched the groundbreaking Hypermobile Ehlers-Danlos Genetic Evaluation (HEDGE) study. Never before has there been a worldwide collaborative effort of this magnitude devoted to finding the underlying genetic markers for hEDS. The study will also look for other blood findings that may add to our understanding of hEDS and help in the search for a diagnostic test. 

HEDGE is the first and only population study in hEDS to sequence 1000 people. Unlike studies of specific families, HEDGE is designed to provide information about causative genetic variants in the hEDS population by using statistical methods to identify variants that occur more commonly in hEDS. Studies in specific families have uncovered variants that appear to cause hEDS findings in a family, but no studies to date have yet shown findings that are thought to affect more than about 2% of people with hEDS. HEDGE is directed at understanding the remaining 98%. 

This World DNA Day, the HEDGE analysis team is pleased to announce that the data are in and analysis is underway! Data is in the analysis pipeline for 1021 whole-genome sequences. The analysts are very happy with the data quality and are working to identify meaningful genetic variants. To do this requires a painstakingly careful and rigorous process, but they are making steady progress.  

We would like to especially thank each and every volunteer who has taken part in the study and donated their time and DNA to help research for our futures.  

Please remember that HEDGE is a research study and not a diagnostic test, so participants will not hear any feedback or results until the end of the analysis in approximately 18-24 months. However, any participants found to have genetically-defined types of EDS will be contacted directly.  

If the study identifies a genetic variant that seems to be responsible for hEDS, we will notify the participants who carry that variant and provide additional information. For more details about the return of results, please refer to the consent form. If we do not identify any relevant genetic variants in your participation, we will not communicate further regarding your involvement in the study.  

 Please stay updated on HEDGE research by visiting our website, joining our CONNECT newsletter, and following us on social media.


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