EDS researchers, patients meet for thank-you gathering for donors

April 07, 2022
A young girl stands before a microphone and reads from a paper
Patient Ella Grace Aikman, 14, shared her journey of living with EDS. Photos by Sarah Pack

It can be all too easy, what with the demands of keeping up with the latest research coming out of other labs, conducting your own research, writing papers, applying for grants to pay for it all and supervising students, for a researcher to lose sight of what really matters: the patient.

Not in the Norris Lab.

There, the young scientists studying hypermobile Ehlers-Danlos syndrome also live with the disorder themselves.

It’s a patient-scientist model that seeks to increase the health care world’s awareness of and uncover the secrets behind “the most common disease you’ve never heard of,” said Russell “Chip” Norris, Ph.D., a professor in the Department of Regenerative Medicine and Cell Biology and the Department of Neurosurgery at the Medical University of South Carolina.

Norris has made a career of studying cardiovascular diseases. But four years ago, when new student Cortney Gensemer came to him for advice navigating graduate school, he encouraged her to work in his lab and see if she could find the gene responsible for her hEDS. Hypermobile Ehlers-Danlos syndrome is one of 13 subtypes of a connective tissue disorder. It’s the most common subtype, and can cause hypermobility, frequent joint dislocations, fatigue, digestive problems, cardiovascular problems and chronic pain.

Tuesday, Norris, Gensemer – who can now add “Ph.D.” after her name – clinical and research colleagues, patients and donors gathered to celebrate the enterprise that has grown out of that first meeting and the vision for a comprehensive institute to come.

As seen through shelving, people look around a lab 
Dr. Russell "Chip" Norris, left, gives a tour of his lab to a group of patient families, donors and colleagues. The Norris lab regularly welcomes patients with EDS who want to see the place where research into the disorder is occurring. 

Thanks to a registry of patient samples, they believe they have found a gene mutation responsible for some cases of hEDS. But even as they refine the paper with their findings to submit to a journal, they are continuing to search for additional gene mutations and to think about how to develop a “one-stop shop” for patients with hEDS. These patients typically find themselves bounced from specialist to specialist for years before someone connects the dots and realizes all of their medical issues are connected.

“This is what defines MUSC – the ability to combine the research, the clinical care, the translational aspect. This is truly ‘changing what’s possible,’ and it can’t be done without putting all the pieces together,” said David Zaas, M.D., CEO of MUSC Health-Charleston Division.

The impetus for the gathering was the announcement of named areas within the lab, honoring donors who are funding specific EDS research.

A sign above the entrance to an area in the lab says Maltz Family Ehlers Danlos Genetic Lab 
Benefactor Ellen Kaye with the Maltz Family Foundation and other philanthropists have provided funding to support the Norris Lab’s EDS research.

The Maltz Family Ehlers-Danlos Genetic Lab within the Norris Lab is where researchers analyze the genetics of the 4,000-and-counting patient samples. In the Charlie and Mindy Brain Ehlers-Danlos Research Innovation Station, college interns will have a space within the lab to meet and learn.

Through this internship program, participants will eventually share hEDS knowledge throughout the biomedical world. Last summer, the lab welcomed four college students, each with hEDS, and Norris plans to continue hosting interns each summer.

This year’s interns include a medical student, a bioengineering major, a chemistry major, a biochemistry major interested in pursuing an M.D./Ph.D. and a postbaccalaureate student preparing to apply to medical school. All have been diagnosed with Ehlers-Danlos syndrome. The students, who will be in Charleston from May through July, will have the opportunity to customize their EDS research according to what most interests them. The expectation is that, as they begin their careers in various biomedical fields, they will spread knowledge of EDS to their colleagues and, eventually, to students.

Paula Traktman, Ph.D., dean of the College of Graduate Studies, described Gensemer as a star student who exemplifies the journey that people take from new student to doctoral degree.

“Everybody in the college works together to develop the skills that people need to become effective researchers, and you've seen all of that in Cortney today,” she told the group. “I think what you see is the amazing things that can be achieved as students reach that excellence in science.”

a young woman smiles in a quiet way at a microphone 
Dr. Cortney Gensemer speaks to the assembled group about how, with the mentorship of Dr. Russell "Chip" Norris, she began to investigate the genetic cause of hEDS. 

EDS is officially estimated to occur in 1 in 5,000 people, which would make it a true rare disease, but some newer research indicates that it could actually occur in 1 in 500 people, which would make it uncommon but far from rare. Having this disorder taught in medical schools would make a difference for patients, said Sunil Patel, M.D., a neurosurgeon who treats many patients with hEDS, including Gensemer. When he was in medical school, he said, EDS was one sentence in a textbook.

Private philanthropy is critical to the research because the National Institutes of Health, the biggest funder of biomedical research, has never funded RO1-level research into hEDS, explained Stephen Duncan, Ph.D., chairman of the Department of Regenerative Medicine and Cell Biology.

closeup of a plaque detailing history of EDS with picture of Zebra (symbol of rare diseases) breaking out of its stripes 
A plaque in the lab highlights milestones in understanding EDS. The zebra is used as a symbol of rare diseases because medical students are often told "when you hear hoofbeats, look for horses, not zebras" – in other words, that they should consider common diseases rather than rare ones. Gensemer and Norris, among other researchers, believe EDS is not as rare as once believed. 

"It’s unbelievable. It’s ridiculous,” Duncan said. “But that’s going to change. I think the fact there’s been seed funding from the foundations and the individual donors – that allows the lab to get the results that are needed to convince the federal government to get involved.”

And at the heart of all that research are the patients. One such patient, 14-year-old Ella Grace Aikman, told her story to the assembly. Diagnosed at age 4, Ella Grace has lived with the chronic pain caused by the condition and endured multiple surgeries. She, too, has become a patient of Patel.

“I am so grateful to have doctors and a physical therapist who didn’t give up on me or just dismiss me,” she said, referring to local physical therapist Susan Chelala, who has become known for her expertise in working with EDS patients.

At the same time, Ella Grace noted that many patients don’t have the ability to travel to find doctors who are well-versed in EDS, underscoring the importance of increasing the medical world’s awareness of the disorder.

“I know this is not the end of my journey, given the nature of EDS, but I have so much hope for the future,” she said. “The research that Dr. Norris and his team are doing and their findings are incredible. I don’t know that I fully have the words to express my gratitude in what this research lab – the first in the world dedicated to EDS research – means to me.

“I have great hope that there will be a center of excellence for EDS here in Charleston, at MUSC, where an interdisciplinary approach to caring for an EDS patient happens and the complexities that EDS adds are understood and regarded in their care. This would be life-changing for so many.”