HEDGE Study Update

Posted October 22, 2019

Last week the Hypermobile EDS Genetic Research Network met at the Annual Society of Human Genetics conference. A truly collaborative and international group, the HEDGE network, consisting of leading authorities in human genetic research, lead the innovative HEDGE (Hypermobile Ehlers-Danlos Genetic Evaluation) research study

By bringing together these medical experts and through building the HEDGE repository, we will truly learn more, not only with this study but with further research in EDS and HSD.

“I am so proud to be part of such a pioneering study, that is going to improve the lives of individuals living with EDS, no matter what the outcome. The insights that come from this study will tell us more than we have ever known before: never in the history of the Ehlers-Danlos syndromes has there been this level of whole genome sequencing.” said Clair Francomano, MD, chair of The Ehlers-Danlos Society’s Medical and Scientific Board, Director of The Ehlers-Danlos Society Center at IU Health, Indiana University, and a member of the Hypermobile Genetic Research Network.  

Historically there have only been under 200 people who have had whole genome sequencing, and less than 500 who have had whole exome sequencing with EDS around the world, that we are aware of. To have this collection of data will enable us to take giant leaps forward with research and discovery for our community.  

The eighth screening of the HEDGE study took place in Baltimore yesterday bringing us up to 358 that have now been screened, and 296 enrolled into the study. 

We aim to have recruited all 1000 participants by the end of July, 2020 when we will begin our whole genome sequencing. “We are working with the best in EDS on the business of gene discovery.” explained Anthony Vandersteen, Medical Geneticist at IWK Health Centre, and member of the Hypermobile Genetic Research Network. This is a long term project dedicated to finding the genetic cause, or causes, of hEDS. It may also lead to the discovery of other forms of Ehlers-Danlos syndrome, and may eventually help researchers find new ways to diagnose the condition earlier and/or find new treatments.

“Understanding the causes of hypermobile EDS, and being able in some cases to provide a molecular diagnosis, will offer opportunities for earlier diagnosis and provide a new path to more effective treatment and comprehensive care.” said Joel Hirschhorn, MD, PhD, Concordia Professor of Pediatrics and Professor of Genetics at Boston Children’s Hospital/Harvard Medical School and member of the Hypermobile Genetic Research Network.

Upcoming confirmed screenings for the HEDGE study include:

Edinburgh (UK) / November 2, 2019

London (UK) / February 22-23, 2020

Ghent (Belgium) / February 29–March 1, 2020 

Paris (France) / March 22, 2020 

Phoenix AZ (USA) / July 9-12, 2020 

To take part in the study, read FAQs and consenting information click here. 

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