Franklin’s Community Spotlight — Dr. Cortney Gensemer
When Dr. Cortney Gensemer, a then-college student, was diagnosed with Ehlers-Danlos Syndrome (EDS), she had only one thought in mind: “OMG I’m not crazy, I have a chronic illness”. As a kid, Dr. Gensemer suffered from never-ending injuries that ended up in multiple orthopedic surgeries, but she always assumed they were caused by clumsiness or sheer lack of luck. Only when a friend suggested she be evaluated for connective tissue disease, she realized there might be something more to it. As she was diagnosed with EDS, she looked back on the tens of medical tests she had undertaken, and the multiple physicians who treated her, and couldn’t grasp the fact no one had suggested there might be a more significant underlying issue with her overall health. She realized then that modern medicine still had a lot to be figured out. This realization is what led her to become what she refers to as a “Patient-Scientist”.
Dr. Cortney Gensemer is currently a postdoctoral scholar in the Norris Lab at the Medical University of South Carolina (MUSC). Her research is focused on the genetic and molecular mechanisms of hypermobile Ehlers-Danlos Syndrome (hEDS), which makes her part of the growing phenomenon called “Patient-Scientist”. This concept refers to individuals who pursue academic research or a medical career in the field of their own disease. “Having EDS truly impacts how I see things as a scientist, and it makes me a lot more creative”, Gensemer says. “When you study diseases, you can read every paper that is out there but there are some things that will be missed, as it is not coming from a patient, so I have this unique insight into this.” In addition, being a “Patient-Scientist” creates a greater trust of the research among that specific patient community. “One of the big issues is that many patients struggle to get diagnosed for years. They experience medical gaslighting, and are told their symptoms are “all in their heads”. So when it comes to the research, they love the idea that there is someone who has this disease, and won’t dismiss them.” This idea was validated by the great number of EDS patients who registered for MUSC’s research project led by Dr. Gensemer.
By now, Prof. Russell (Chip) Norris, Dr. Gensemer, and their lab team have found multiple genes that they believe are responsible for hEDS. They have constructed a mouse model (one of the few for EDS research in the world) and are holding WES analysis on hundreds of patients using Franklin. However, the end goal is not just genetic testing. “So much of the EDS research is focusing on the gene discovery, and then just stops, and there is a lot of opportunity in the future to really have therapeutic approaches that are specific to individual patients.” Dr. Gensemer hopes that the first actionable step would be to develop a test that provides an EDS diagnosis in a matter of days. This would help patients to immediately seek relevant medical help, instead of shifting among treatments and physicians for years. What’s more, an effective diagnosis could also allow them to quickly identify additional family members with this syndrome, and offer them support as well.
One of Dr. Gensemer goals is that the Norris Lab at the MUMC would become a national clinical care and research hub for EDS. There is already a funded internship program, under Dr. Gensemer’s name, with several interns, promoting the research for the disease. As EDS is a connective tissue disorder that impacts multiple body areas and requires diverse medical needs, they plan on centralizing a wide array of specialists in the same facility, allowing them to collaborate on cases and improve care for EDS patients.
Last but not least, Dr. Gensemer and her team are strongly advocating for education, awareness, and funding for EDS. They lobby to be added to Congress’s agenda and be funded by the NIH, while also advocating to include EDS in the medical school curriculum. Having discovered her passion for science communication and patient advocacy, Cortney is a known and recognized voice of EDS on multiple social media platforms (@CortDoesScience), and is one of the most promising researchers in the field these days.