CTSA program support enables the creation of a rare disease patient registry

When Miss America 2020, Camille Schrier, walked into the Norris Lab on the campus of the Medical University of South Carolina, she was among peers. Not other contestants but other people who love science and are affected by an uncommon connective tissue disorder called Ehlers-Danlos syndrome, or EDS.

Schrier is perhaps not a typical Miss America. Her winning talent was a chemistry experiment, and she’s pursuing a Doctor of Pharmacy degree at Virginia Commonwealth University.

But it was the Norris lab’s focus on EDS that brought her to Charleston.

Among the Norris lab’s accomplishments is a patient registry, in which patients voluntarily sent saliva samples for testing. The registry was driven by four clinical coordinators at the South Carolina Clinical & Translational Research Institute (SCTR) and Natalie Koren in Norris’ lab. The registry opened in December and was immediately inundated with sign-ups. “In one day, we had the largest registry for hypermobile EDS in the world,” Norris said.

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  • SCTR
  • MUSC
  • Medical University of South Carolina
  • rare diseases research

Publishing CTSA Program Hub’s Name
Medical University Of South Carolina
CTSA Program In Action Goals
Goal 2: Engage Patients and Communities in Every Phase of the Translational Process
Goal 3: Promote the Integration of Special and Underserved Populations in Translational Research Across the Human Lifespan