The U.Va. Health Ehlers-Danlos Syndrome and Hypermobility Disorders Center hosted the Ehlers-Danlos Research Symposium Program Thursday and Friday to bring clinicians, researchers, patients and students together to highlight recent research advancements to improve EDS diagnosis and management.
EDS is a rare group of genetic disorders that primarily result in hypermobility and easy bruising in those affected. The disorder affects connective tissues — a material found throughout the body that provides structural support and protection to organs, joints and skin. Collagen is the primary protein that gives connective tissue its strength and flexibility, and when this protein is mutated or faulty, it affects multiple organs and systems simultaneously.
There are 13 subtypes of EDS, with each having its own set of symptoms. The most common subtype is hypermobile EDS, which, unlike the other 12, has no known genetic testing. It is entirely diagnosed on clinical criteria established by the International EDS Consortium. Diagnosis can take anywhere between 10-14 years because, according to a 2025 study on those with hypermobile EDS, 94 percent of patients are often told that their symptoms are psychological prior to getting better care.
Dr. Dacre Knight, medical director of the EDS and Hypermobility Disorders Center, stated that the biggest challenge patients with EDS face is not just getting the diagnosis, but rather the high unmet need for care.
Knight, who founded the EDS Clinic at the Mayo Clinic before bringing it to the University, said he hopes that Thursday and Friday’s symposium and the ideas presented created a shift toward better institutional investment in EDS programs.
“I would love to see every academic institution [have] a program for [these] syndromes and hypermobility disorders,” Knight said. “These conditions are out there in the communities at other academic medical institutions … [we just need others] to keep an open mind and learn a little bit about what to look out for.”
Ian Nataro, clinical research coordinator in psychiatry and a patient speaker at the symposium, explained how the complexity of EDS is often undermined by physicians. Nataro has seen both the patient and physician perspective of EDS. His mother Ina Stephens is the current interim medical director for the EDS Center at the University. He also has family members with EDS, leading Nataro to believe that most treatments available only focus on the symptoms rather than the underlying issues with the patient. He urged physicians across the U.S. to instill trust in patients that are presenting complicated, multi-faceted symptoms, in spite of the underlying biological systems not being fully understood.
Nataro discussed that even those with subtypes of EDS without concrete genetic markers, like hypermobile EDS, have real biological disorders. According to Nataro, there is currently no genetic mutation connected to hypermobile EDS, requiring physicians to clinically observe and diagnose patients, which is why there is a big need for physicians who truly understand the patient perspective.
“Most of what you're given are band-aids for your symptoms,” Nataro said. “The difference between getting … something that's actually addressing the mechanism of your disorder … is night and day — it's like something is finally falling into place.”
The symposium also gave light to barriers facing researchers who themselves have disabilities. Molly Griggs, a researcher at the Medical University of South Carolina’s Norris Lab, which conducts genetic, molecular and clinical research on EDS, spoke about building inclusive and accommodating laboratory environments.
Griggs used the lab’s clinical research coordinator Tayler Goectau, who has hypermobile EDS, as an example of a patient-scientist who aligned with the lab’s mission. Goectau, who was initially a visiting scholar, joined the Norris Lab full time as a clinical research coordinator after seeing the impact of its research on patients like herself.
The Norris Lab’s accommodations help "normalize visibility of invisible disabilities” by having ergonomic chairs to reduce strain on hypermobile joints, automated doors for better wheelchair accessibility and easy-to-use pipettes to accommodate the hand and finger joint instability commonly found in EDS. These accommodations allow patient researchers to contribute to advancing EDS research.
Griggs urged other institutions to create systems like those that exist in the Norris Lab, where inclusions are “standard practice, not special requests.” She also noted that only 40 percent of physicians felt confident providing care to disabled patients — a gap that Knight said he hopes will decrease because of the symposium.
Researchers at the symposium also presented new findings that show clear advances in understanding EDS. Dr. Chip Norris, professor at the Medical University of South Carolina and Norris Lab founder, presented findings from his lab that showed a genetic mutation in the kallikrein gene family in hypermobile EDS patients. According to Norris, this study “brings new hope” in understanding the condition where there is no current genetic test available. While it has not yet been used in a clinical trial, it is considered a “breakthrough,” Norris said.
At the University, Dr. Rachelle Crescenzi’s SALT Lab is uncovering that lipedema, a chronic disorder that disproportionately stores fat in arms, legs and the lower trunk and often overlaps with EDS, is biologically distinct from obesity, giving physicians an objective diagnostic tool which previously did not exist.
“It is so wonderful to see so many like minds coming together,” Knight said. “It takes the networking and collaboration to move it forward, because there’s such an absence of care and understanding in so many places.”
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