This Is How We Innovate
The Medical University of South Carolina Is Helping Researchers Build the World’s First Designated Ehlers-Danlos Lab
When Cortney Gensemer, then Ph.D. student at the Medical University of South Carolina, asked her faculty mentor, Russell “Chip” A. Norris, Ph.D., to help her choose a research topic, she never expected to study her own disease.
Gensemer was diagnosed with hypermobile Ehlers-Danlos syndrome (hEDS) when she was 19 years old — years after her symptoms began. As a specialist in heart valve disorders, Norris had a baseline understanding of hEDS but was curious to learn more. When he asked Gensemer which gene causes the illness, her response was immediate: nobody knows.
This didn’t discourage Norris. At MUSC, researchers seek answers to the unknown every day. And now he had an opportunity to empower Gensemer to do the same.
“Well,” said Norris, “Do you want to find it?”
Where Innovation Is Always Worth the Challenge
Every discovery begins with a question. And at the Medical University of South Carolina, no question is too large, and no challenge is too daunting. MUSC researchers know that answers are within reach, no matter the odds.
Norris and Gensemer knew that they had the potential for exceptional impact. hEDS is the most common form of EDS, affecting 1 in 500 people. And as a genetic connective tissue disease, it causes near-constant pain.
“I’d be lying if I didn’t say I’m in pain basically every second of every day,” Gensemer confesses. “This manifests in a lot of ways, sometimes with a lot of pain, joint dislocation, soft tissue or tendon tears.”
Although hEDS is common, there was still no real information on its causative gene, no real research groups, and no real programs studying it. According to Norris, the perception was that hEDS was a benign disease. And to invest time and money into that type of disease was risky.
“As scientists, we’re given a certain amount of funds to pursue a very focused project. Diverting from those to study other things requires new funds, and finding those funds can be challenging and even have a negative impact on your career. Some really good scientists had tried to study hEDS and had not been successful,” says Norris.
However, at the Medical University of South Carolina, researchers are not only encouraged to pursue new and unexpected solutions but given the tools to do so with confidence. From assisting with grant proposals to providing a search tool for funding opportunities, MUSC breaks down the roadblocks so scientists can explore without limits.
And with help from the Medical University of South Carolina, Norris and Gensemer did just that. In a few short years, the duo built the world’s first designated hEDS lab. With the university’s resources, they were able to study a large family with hEDS and narrow down a list of suspect genes to just one candidate gene, and that was only the start.
Soon, they created an hEDS registry — one that grew to over a thousand patients in just one night and eventually became the largest registry in the world. They discovered the gene variant in other patients and generated animals to validate the genetic discovery. Norris and Gensemer’s work at MUSC became the first-ever gene discovery/validation study for hEDS.
Reshaping the Future
We aren’t afraid of a challenge at the Medical University of South Carolina. We invest in our faculty and students because we know that to change the future of their field they need tools, support, and space to flourish.
“Something that's been kind of amazing being here is that even as a student, I always had a seat at the table,” Gensemer explains. ”And to have leadership and administration listen to someone who was, you know, ‘just a Ph.D.’ It never felt like I didn’t belong in the conversation.”
Not only did Gensemer become a trusted student expert — she became what Norris calls a “patient-scientist,” someone whose expertise comes from both research training and lived experience. Her drive inspired the creation of the Gensemer Hypermobile Ehlers-Danlos Syndrome Intern Program. This internship offers students with hEDS the unprecedented opportunity to research their own disease. And through the Medical University of South Carolina’s state-of-the-art lab, they can now answer the questions that have plagued them.
“It is really rare and unique,” says Gensemer. “When we talk about the patient-scientist concept, it kind of really fits into that idea of changing what's possible. It's something that most places aren't doing.”
The culture of innovation at the Medical University of South Carolina does far more than create scientific discoveries. It provides hope. Hope for the researchers who seek a university that believes in their vision and can provide the support they need. Hope for the patients, who can now have a voice in their treatment and diagnosis. And hope for future researchers — the ones that will make breakthroughs for decades to come.
“I met a seven-year-old girl at physical therapy for hEDS who apparently follows me on social media,” Gensemer shares. “She comes over and says hi with her mom and tells me she wants to be a scientist when she grows up. And those moments, aside from any research discoveries that we make, just the concept of giving patients hope and maybe inspiring the next generation of researchers, is so impactful.”
This content was paid for and created by Medical University of South Carolina. The editorial staff of The Chronicle had no role in its preparation. Find out more about paid content.
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