Ehlers-Danlos Society to Use $1M Donation to Advance Genomic Research on Hypermobile EDS

An anonymous $1 million donation gifted to The Ehlers-Danlos Society will be used to establish an international research network committed to understanding the genetic mechanisms behind hypermobile Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorders.

The donation, which represents the single largest in the organization’s 33-year history, will help fund the most comprehensive, collaborative effort ever undertaken to investigate the cause of hypermobile EDS (hEDS). The endeavor, called the Hypermobile EDS Genetic Research Network, will include leading experts from a variety of medical and scientific fields who will delve into the genetics and molecular biology of the disease.

In particular, they will be looking at changes in the level of genes and their activity in hEDS patients in an effort to identify markers that can help develop better diagnostic tests and potential therapies.

“Because hypermobile Ehlers-Danlos lacks a known genetic cause, this truly has the potential to be a transformational gift,” Lara Bloom, international executive director of The Ehlers-Danlos Society, said in a press release. “Through our donor’s extraordinary generosity, we are finally able to launch a virtual ‘moonshot’ in the advancement of our understanding into the most prevalent — and often most vexing — form of the Ehlers-Danlos syndromes.”

EDS is a group of genetic connective tissue disorders characterized by hypermobile joints (joints that easily move beyond the normal range), skin hyperextensibility (skin that can stretch beyond normal range), and tissue fragility.

Hypermobile EDS (hEDS), a subgroup of EDS, typically begins with extreme joint hypermobility, a susceptibility to sprains, strains, subluxations (incomplete or partial dislocation of a joint or organ), and a tendency to get easily fatigued.

Hypermobility spectrum disorders are characterized by joint hypermobility that does not correspond with other known conditions.

Currently, the cause of hEDS and hypermobility spectrum disorders is not known. Consequently, there are no effective therapies for long-term treatment of these diseases.

“If we can achieve a better understanding of the underlying genetics and the gene expression abnormalities, we may be able to develop diagnostic tests and find more specific treatments for hypermobile EDS — and, potentially, the hypermobility spectrum disorders,” said the donor, whose 29-year-old daughter is battling the disease.

“We’ve made great strides in biotechnology over the last two decades and our ability to understand and find treatments for genetic syndromes is at a turning point. It’s time to move forward with detailed research into the underlying issues causing hEDS and HSD [hypermobility spectrum disorders] so we can know where to target therapy,” the donor added.

The anonymous donor also emphasized that the “severity and prevalence of these syndromes is greatly underappreciated. It is possible that hEDS and HSD are a collection of distinct and different genetic syndromes with similar manifestations. If so, it’s important we understand this so we can pursue the appropriate research for each condition and make the best recommendations about family planning.”

The Ehlers-Danlos Society is a worldwide community of patients, loved ones, healthcare professionals, and supporters who are committed to helping save and improve the lives of those affected by EDS, hypermobility spectrum disorders, and related conditions.