Ehlers-Danlos Society Awards $400K for New Research Into hEDS, HSD

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

Share this article:

Share article via email
Ehlers-Danlos Society funding | Ehlers-Danlos News | illustration of coins going into piggy bank

The Ehlers-Danlos Society has announced $400,000 in funding for a new research project that seeks to shed light on the biology of hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD).

The study aims to enroll 50 people diagnosed with hEDS, and another 50 with HSD, all of whom will be selected through the society’s EDS and HSD Global Registry and Repository. Participants will contribute a blood sample, and levels of different proteins will be assessed.

This will be the largest, most comprehensive examination of blood protein levels to date and may provide insights into the nature of the disorders as well as possibly advancing diagnosis and treatment,” according to a press release from the society.

hEDS is the most common type of EDS, characterized by symptoms like hypermobile joints, frequent dislocations, and smooth, fragile skin. While hEDS is assumed to be a genetic disorder — because it can run in families — in most cases, the underlying genetic mutation that causes the disease is not known.

HSD, meanwhile, is a broad diagnostic category that refers to conditions causing symptomatic hypermobile joints, for which other potential explanations like EDS have been excluded.

Recommended Reading
Center of Excellence program/Ehlers-Danlos News/news illustration

Ehlers-Danlos Society Launches Center of Excellence Program

“The Ehlers-Danlos Society is funding a series of vital research studies to further the understanding of hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD), with the goal of finding the underlying causes for these conditions, as well as developing diagnostic tests,” the nonprofit said. 

This project is prioritized as “GAP Research” — part of the society’s efforts to investigate the biological causes of the disorder.

In addition to global analyses of blood proteins, called proteomics, the upcoming study also will assess patients’ genetics. Specifically, it involves whole genome sequencing, which as the name implies involves determining the exact sequence of a person’s entire genetic code. Such sequencing will be done for every participant.

Participants also will undergo epigenetic analyses, looking at how the DNA is “packaged” or “marked” within each individual’s cells. Different epigenetic patterns are often tied to differences in the activity of the genes, and might feasibly be involved in causing hEDS and/or HSD. According to the society, this will be the first study to ever look at epigenetic markings of DNA in people with either diagnosis.

This project will be a collaboration between several expert teams. The proteomics analyses will be led by Chip Norris, PhD, from the Medical University of South Carolina, and Clair Francomano, MD, of Indiana University. Whole-genome sequencing analyses will be led by Joel Hirshcoen, MD, PhD, from the Broad Institute of MIT and Harvard, alongside Christina Laukitis, MD, PhD, from Carle Urbana on Windsor, in Illinois. Bekim Sadikovic, PhD, of the University of Western Ontario, will head the epigenetics analyses.