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.
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
Previous Research
From Discovery to Dissemination:
Communication & Resources
Science should live in the hands of the people it's meant to serve. That's why we are dedicated to making research accessible through our public education materials, research translations, and patient-scientist initiatives. See some of our translational resources below.
Question Board
The
Every scholar, intern, patient, and collaborator who walks through our doors leaves something behind: a question about Ehlers-Danlos syndromes or related conditions.
Before anyone exits the lab, they write it down on what we call the Question Board — whatever is on their mind, whatever they don't yet understand, whatever keeps them up at night. The board you see here is the result: dozens of questions in dozens of handwritings, from researchers and patients alike, each one pushing us toward something we hadn't thought to ask yet.
Patients bring something no textbook can offer: the lived experience of what it actually feels like to have a condition. And that knowledge changes everything. Take hypermobile Ehlers-Danlos Syndrome (hEDS) as an example. The clinical literature tends to highlight joint dislocations and skin hyperextensibility as the hallmark features. But when we gathered data directly from patients (in research studies) about what affected their daily lives most, a very different picture emerged. The three most burdensome symptoms they reported were chronic pain, autonomic dysfunction, and gastrointestinal issues, none of which top the standard textbook summary.
Insights from patient studies and the question board alike have fundamentally reshaped our research agenda. Instead of studying what the literature told us to study, we pivoted to investigate what patients told us was actually harming their quality of life.
The Question Board is how that kind of shift begins — one honest question at a time.
NOW IT'S YOUR TURN!
What question would you leave on our board? Write or draw it on the board — your question might shape what we study next.
Once you've written your question, screenshot it, post it, and tag us @thenorrislab with the hashtag #myEDSquestion
