The Ehlers-Danlos Society receives $260,000 donation to advance hEDS and HSD research

Posted December 2, 2021

The Ehlers-Danlos Society is delighted to announce we have received a donation of $260,000 to advance research for those living with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders. This transformative gift from an anonymous Donor generously enables us to accelerate research to benefit the community, worldwide.

Accelerating Diagnostic Tools

Hypermobile EDS (hEDS) remains the only type of the fourteen Ehlers-Danlos syndromes that cannot be confirmed through a genetic test. The genes associated with hEDS are currently unknown, and diagnosis is made on a clinical basis.

There is currently an unmet clinical need for the development of sensitive and unbiased diagnostic tools for hEDS. Dr. Chip Norris at the Medical University of South Carolina, Principal Investigator, and Dr. Clair Francomano of IU University, Co-Investigator, will lead the newly funded study in collaboration with The Ehlers-Danlos Society Hypermobility Network.

This research study will seek to lead to the development of an accurate and rapid diagnostic test that can be accessible for all individuals living with hEDS, globally, overcoming the many barriers people with hEDS face in receiving a proper diagnosis.

Experimental Design

Dr. Norris and Dr. Francomano will perform an unbiased proteomic biomarker discovery study on 1 milliliter of human plasma samples. The samples will be taken from 50 people who have a clinical diagnosis of hEDS and who are part of The Ehlers-Danlos Society’s current research study, the Hypermobile Ehlers-Danlos Syndrome Genetic Evaluation (HEDGE). This data will be compared against 50 healthy age/sex-matched controls.

The HEDGE study has now invited 1000 individuals with hEDS for enrollment, those diagnosed using the 2017 clinical criteria, and whole-genome sequencing has now begun at The Broad Institute of MIT and Harvard.

If we are successful in identifying the underlying genes for hEDS, we can create vital opportunities for earlier diagnosis, and more comprehensive treatment and care.

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