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Ehlers-Danlos Syndrome Research

Deciphering the Genetic and Molecular Foundations of EDS

Hypermobile Ehlers Danlos Syndrome (hEDS)

The most common disease you've
never heard of

Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders that affect the body's ability to produce strong and stable collagen. Hypermobile EDS (hEDS) is the most common type, estimated to affect around 1 in 500 individuals, with varying degrees of severity and presentation. Despite its prevalence, hEDS has remained a neglected condition in the medical and scientific fields.

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Image by digitale.de

Advancing EDS & Dysautonomia Research

The Norris Lab at MUSC is part of a formal collaboration with Sequencing.com to study the genetic pathophysiology of Ehlers-Danlos Syndrome (EDS) and Dysautonomia. This project leverages de-identified whole-genome sequencing and clinical phenotype data to advance what may become the largest genetic study of these conditions to date. We are grateful to the EDS and Dysautonomia communities whose data contribute to this science.

Areas of Research

Genetics

Family genetics

Population genetics

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Clinical Research

Biorepository

Vagus Nerve

MSK biorepository

Tethered Cord Syndrome

Global Survey

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Connective  Tissue      Biology

Dermatological Pathologies

KLK Gene Family

Proteomics & Mast Cells

Rare Types of EDS

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The Medical University of South Carolina

Dept. of Regenerative Medicine & Cell Biology

Charleston, SC
thenorrislab@musc.edu

© 2025 by The Norris Lab

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