MUSC faculty to discuss collaboration to bring hEDS research from lab to bedside

The South Carolina Clinical & Translational Research Institute (SCTR) will host the next Translational Research Day on March 25. This annual event showcases the scope of translational research conducted in SCTR’s network, featuring keynote speakers, presentations from students and faculty members and discussion sessions.

This year’s keynote speakers are Russell “Chip” Norris, Ph.D., and Sunil Patel, M.D., whose talk “The power of listening: How a journey initiated by one is transforming the scientific and clinical landscape for millions,” will discuss their journey together and the future of research on and clinical care of hypermobile Ehlers-Danlos Syndrome (hEDS).

“This specific project is a fantastic translational story and combines work from both a basic scientist, a clinician and, importantly, a patient. Together, they identified a gene that is altered in a specific disease, developed a potential test for this disease and worked with an MUSC clinician to treat those patients,” said Anand Mehta, D.Phil., College of Medicine senior associate dean for research and SmartState Endowed Chair in Proteomic Biomarkers.

 

The Norris Lab identified a genetic mutation in those with hypermobile Ehlers-Danlos Syndrome (hEDS) that has the potential to be used as a diagnostic marker. Early diagnosis is critical to prevent injury in these patients, who have hypermobile joints. Currently, however, it can take years for them to receive a diagnosis. Graduate student Cortney Gensemer, who is a member of the Norris Lab and has hEDS herself, initiated the study and has built a team of hEDS researchers around her.

“I am very passionate about my research project, probably more than most Ph.D. students,” Gensemer said. “I know the impact that this work can have on patients in the EDS community, and I know what it’s like to live with the disease. My patient experience helps me ask critical scientific questions that might be missed by simply reading the literature. Through guidance from Dr. Norris and the collaborative lab environment, we can work on finding the answers.”

Brought together by one young researcher with hEDS, Norris and Patel have formed a close collaboration that pushes the science forward for the benefit of these patients.

 

"Caring for patients involves not only providing them the best care with the knowledge we have but also helping them answer their own questions of why and how their ailment occurred,” said Patel. “This latter quest requires a group of scientists and clinical care professionals working together, dedicated to this mission, always with the patient at the center. Institutes defined in this way will make strides in solving any human condition.”

Norris agreed that collaboration is crucial. “Collaborations between physicians and scientists are the bedrock from which new discoveries are possible,” he said. “The future of health care, especially related to patients with complex diseases like hEDS, will be reliant upon our ability to build interprofessional education, research and practice. Through these interdisciplinary partnerships at MUSC, we are able to provide not only better holistic care but also a foundation of hope for these patients in a way that is not possible in isolation.

SCTR’s research coordination and management (RCM) team worked with Gensemer on developing a DNA registry for EDS patients that was instrumental in identification of the mutation.

“We established a patient registry to look for genetic causes of hEDS and have gotten an enormous response,” Gensemer said. “But the registry doesn’t just allow us to collect DNA; it also gives us a database of patients who can be contacted for translational research opportunities in the future. I never anticipated that the registry would be so big, but it shows how much patients want to help accelerate discoveries that can answer some of their symptoms.”

Event details

8:30 a.m. to 12:30 p.m. March 25

Registration deadline: 5 p.m. March 24

Zoom login provided upon registration.

Contact Sydney Bollinger with questions.

Clare Tyson, program manager of SCTR RCM, felt privileged that RCM was able to play a seminal role in a project with so much potential for improving the lives of patients.

“The RCM is honored to collaborate with Dr. Norris’ research lab in the creation of one of the largest and widest-reaching registries for hEDS,” she said. “We are thrilled to be a part of this initiative in advancing science and transforming the lives of those in the EDS community.”

Now, Norris and Patrick Flume, M.D., SCTR Co-PI, serve on the Rare Diseases Advisory Council (RDAC) for South Carolina.

“The state has recognized there are challenges for those affected by rare diseases, such as Ehlers-Danlos Syndrome, by creating a committee to advise them on important issues, including research,” Flume said.

RDAC, still in its beginning stages, aims to inform state leadership and other stakeholders on issues related to rare disease research, diagnosis, treatment and education.