Ehlers-Danlos Society Awards $275K in Grants to Support Research on EDS and HSD

The Ehlers-Danlos Society will award a total $275,000 in research grants to four projects seeking to advance knowledge of Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD), and improve the quality of life of people with these connective tissue disorders.

“This round of grant proposals featured some incredibly exciting and needed research studies and projects that have the potential to change and even save lives,” Lara Bloom, international executive director for the Ehlers-Danlos Society, said in a press release. “We cannot thank our donors enough for allowing us the honor of supporting these critical projects.”

The first project, titled “Outcomes of aortic and arterial surgical interventions in individuals with Vascular Ehlers-Danlos Syndrome,” received $75,000.

A team led by Sherene Shalhub, MD, PhD, and Peter Byers, PhD, from the University of Washington, will review the medical records of about 1,000 people with vascular EDS (vEDS) carrying mutations in the COL3A1 gene. The researchers will determine the best therapeutic strategies to help these patients prevent, survive, and recover from life-threatening blood vessel ruptures.

A $50,000 grant was made to the second project, titled “Proteome profiling for hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders to unravel pathogenetic mechanisms and identify potential biomarkers supporting clinical diagnosis,” led by Marina Colombi, PhD, from Brescia University in Kentucky.

Colombi and her team will try to better understand the differences between connective tissue — the tissue that connects muscles, tendons, and bones in the body — in patients with hypermobile EDS (hEDS) and HSD. To do so, they will analyze and compare skin samples from people with both disorders. The main goal is to develop new ways to detect these differences, to make it easier for patients to be diagnosed, and for physicians to select the best course of treatment.

A third project, led by Fransiska Malfait, MD, PhD, from the Center for Medical Genetics Institution at Ghent University in Belgium, received $75,000. Titled “Exploring Causal Pathways for Chronic Musculoskeletal Pain in the Ehlers-Danlos syndromes,” the project’s goal is to study the molecular mechanisms involved in chronic pain associated with classic EDS, called cEDS, and hypermobility EDS, known as hEDS.

Researchers will assess and characterize pain and pain-related behaviors in people with hEDS and cEDS, as well as in a mouse model of cEDS. The findings may help identify new therapeutic targets for pain management for each EDS sub-type.

The final project, titled “Refining and improving the Ehlers Danlos Syndrome Variant Database,” will be led by Raymond Dalgleish, PhD, from the University of Leicester in the U.K.

Dalgleish’s team, which received a $75,000 grant, will work on improving the Ehlers-Danlos Syndrome Variant Database, an online database that has been gathering data from genetic sequencing studies on people with EDS for more than 30 years.

Despite being widely used by researchers and physicians alike, this database is outdated, Bloom said. With this grant, which is supported by the Hypermobile Ehlers-Danlos Genetic Evaluation (HEDGE) research fund, the team will update the database’s software, improve data security, and add new features that will make the database more user-friendly and viable in the long-term. The research team will use the database as they sequence 1,000 patient genomes to seek a genetic cause for hEDS.