The Norris Lab

The Norris Lab Advancing genetic, molecular, and clinical research for Ehlers-Danlos Syndrome and cardiovascular diseases.

Reminder for pain awareness month ⭐️💕
09/03/2026

Reminder for pain awareness month ⭐️💕

New publication! 🧬Dermatosparaxis Ehlers-Danlos Syndrome (dEDS) is caused by mutations in ADAMTS2, a gene that normally ...
09/03/2026

New publication! 🧬

Dermatosparaxis Ehlers-Danlos Syndrome (dEDS) is caused by mutations in ADAMTS2, a gene that normally makes an enzyme responsible for “trimming” collagen so it can mature into strong, organized fibers. When this enzyme doesn’t work, collagen fibers end up twisted and disorganized, what scientists have described as looking like “hieroglyphics” under the microscope.

Clinically, dEDS is marked by unusually soft, loose, and fragile skin prone to bruising and injury from even minor trauma, downstream effects of this collagen processing defect.

Our team created a mouse model carrying the same mutation seen in some people with dEDS, then studied it using tissue imaging, protein analysis, and single-cell gene expression to better understand how defective collagen processing drives these features.

Swipe through to learn more, and scan the QR code to read the full study, out now in Biomedicines.

📄 Petrucci-Nelson et al., 2026, Biomedicines

Our cardiac research intern this summer studied the relationship between mitral valve prolapse and fibrosis. Thank you t...
09/01/2026

Our cardiac research intern this summer studied the relationship between mitral valve prolapse and fibrosis. Thank you to the Kendra Springs family for the Kendra Springs Memorial Research Award, which each summer allows one College of Charleston student the opportunity to participate in an intensive biomedical internship in the MUSC Norris Lab.

The Norris Lab’s Visiting Scholars Program offers a three-day, accessible, and immersive experience for young patients w...
08/28/2026

The Norris Lab’s Visiting Scholars Program offers a three-day, accessible, and immersive experience for young patients with EDS to become patient-scientists, or for those with a vested interest in EDS research & care.

Over three days at MUSC, participants engage with our research, shadow scientists, meet experts in clinical and scientific fields, & connect with other EDS patients. This brief but immersive experience enables scholars to participate in ongoing research and form meaningful connections, all while accommodating their health and academic needs.

Applications are open to US residents and are not limited to those currently enrolled in school.

Exploring the Relationship Between POTS & PANS (no, not the kitchenware) Brain Inflammation Collaborative, Inc.
08/19/2026

Exploring the Relationship Between POTS & PANS (no, not the kitchenware) Brain Inflammation Collaborative, Inc.

A generous donor has offered to match all Norris Lab donations until we raise up to $100,000 for Ehlers-Danlos syndrome ...
08/18/2026

A generous donor has offered to match all Norris Lab donations until we raise up to $100,000 for Ehlers-Danlos syndrome research! Scan the QR code or visit www.thenorrislab.com/support

08/17/2026

Beautiful moments from our summer 2026 symposium, celebrating all the hard work of our dedicated patient-scientists & highlighting our brilliant collaborators researching Ehlers-Danlos syndromes, mitral valve prolapse, and familial dysautonomia ❤️

Visiting Scholars Program applications are now open! Scan the code or go to thenorrislab.com/vsp 🦓
08/14/2026

Visiting Scholars Program applications are now open!
Scan the code or go to thenorrislab.com/vsp 🦓

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