Celebrating Patient-Science for EDS Month

What better way to honor this month than by sharing the story that sparked our lab’s journey into EDS research, and continues to guide everything we do.

Cortney Gensemer, PhD

Cortney Gensemer joined the Norris Lab in 2019 to study mitral valve prolapse. During her first meeting with Dr. Norris, she shared that she lives with Ehlers-Danlos Syndrome. Dr. Norris not only listened with care, but he encouraged her to research her own condition under his mentorship. This conversation empowered her to begin her personal mission of understanding the genetic cause contributing to hypermobile Ehlers-Danlos Syndrome (hEDS), the subtype that she lives with. What started as a cardiac-focused lab quickly expanded into a multidisciplinary research group committed to unraveling the complexities of EDS and cardiac diseases.

Today, the Norris Lab is a leader in hEDS research. Our work includes searching for genetic variants, exploring connective tissue biology, and partnering with clinicians and patients to drive meaningful discoveries. Shortly after Cortney joined the lab, we launched our Patient-Scientist Initiative, which empowers individuals with lived experience of EDS to contribute directly to scientific progress.

We offer multiple patient-science programs, including our hypermobile EDS Internship Program (HIP) and the Visiting Scholars Program (VSP). While HIP is offered once a year for bright young patient-scientists to spend the summer in the lab, VSP takes place multiple times yearly for 3-day mini-internships designed to give individuals living with hypermobile Ehlers-Danlos Syndrome (hEDS) hands-on exposure to scientific research and meaningful engagement with the broader EDS research community.

Last month, we loved having our April Visiting Scholars in the lab! Mary, Elliot, Aubrey, and Kaia joined us from across the country to participate in the Norris Lab's Visiting Scholars Program (VSP). During their time with us, the Visiting Scholars got hands-on experience in various lab techniques, including ELISAs, cell culture, western blotting, DNA extractions, and other immunoassay methods. Beyond lab work, they engaged in rich discussions around healthcare delivery, policy, and advocacy efforts, exploring the broader systemic issues that impact patients with EDS.

We were also thrilled to be joined for a special lunch by Dr. Anne Maitland, a physician at MUSC and a leading expert on mast cells and related disorders. Her insight and generosity with her time made for a powerful learning moment for our scholars.

The Visiting Scholars Program embodies our commitment to collaborative, patient-driven research. By bringing patient-scientists directly into the lab, we diversify the scientific process and ensure that the research is grounded in the lived realities of those it seeks to serve.

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