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 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.”