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The Ehlers-Danlos Society is excited to announce the start of recruitment for participants in the Hypermobile Ehlers-Danlos Syndrome Genetic Research Study, devoted to finding the underlying genetic markers for hypermobile EDS (hEDS).
Since the announcement of the extraordinary “Moonshot” donation in early 2018, which was then followed by a generous matching donation in early 2019, The Ehlers-Danlos Society brought together an international group of physicians, geneticists, and technical staff to form the Hypermobile EDS Genetic Research Network, dedicated to finding the genetic cause, or causes of hEDS. Of the 14 subtypes of the group of connective tissue disorders known collectively as the Ehlers-Danlos syndromes (EDS), only the hypermobile type does not yet have an identified genetic marker. It is also the most common form of EDS.
“To find preventions and treatments for hEDS, we have to understand the cause. Genetic studies like this one provide a path towards that goal,” 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.
Over the next nine months, The Ehlers-Danlos Society will recruit, screen, and genetically sequence 1000 individuals who have been diagnosed with hypermobile EDS, according to the most recent clinical criteria established in 2017.
The Hypermobile Ehlers-Danlos Syndrome Genetic Study would not be possible without the EDS and Related Disorders Global Registry, another ambitious worldwide research effort spearheaded by The Ehlers-Danlos Society. Launched in July of 2018, the Global Registry is a collection of standardized health information provided by thousands of patients with all forms of EDS and hypermobility spectrum disorders (HSD), allowing researchers to compare and analyze patient data on a much larger scale than possible in individual research studies alone. The Registry has the potential to unlock countless discoveries about all forms of EDS and HSD and lays the groundwork for large-scale research efforts like the Hypermobile Ehlers-Danlos Syndrome Genetic Study. All potential study participants must first join the Global Registry.
The first enrollment events will take place at The Ehlers-Danlos Society European Learning Conference in Madrid, Spain, in April 2019, and the Learning Conference in Nashville, Tennessee, USA, in July and August 2019. Throughout the year, the Society will also be working with selected clinicians around the world to invite their qualifying patients who have completed the Global Registry to take part in the study.
“Understanding the genetic causes of hypermobile EDS is absolutely crucial to the EDS community,” said Clair Francomano, MD, chair of The Ehlers-Danlos Society’s Medical and Scientific Board, Director of The Ehlers-Danlos Society Center for Clinical Care and Research at the Harvey Institute of Human Genetics in Baltimore, MD, and a member of the Hypermobile Genetic Research Network. “It will allow us to make unequivocal diagnoses, for one thing. Further, understanding the genetic pathways leading to hypermobile EDS will inform the search for rational therapies for this disorder, and hopefully, eventually, a cure.”
“If we are successful in identifying the underlying genes for hypermobile EDS, the opportunities for earlier diagnosis and more comprehensive treatment and care are virtually limitless,” stated Lara Bloom, International Executive Director for The Ehlers-Danlos Society. “We are incredibly grateful to the generous donors who’ve made this possible.”
For more information about this study, including how to participate, please visit the Hypermobile EDS Genetic Research Study page