Ph.D. student has rare disease. Her own research discovered a potential breakthrough.

CHARLESTON, S.C. - When Cortney Gensemer was diagnosed with Ehlers-Danlos syndrome at 19 years old, she had many questions because little was known about the rare disease.Now, the 26-year-old may have the answers to those questions— for herself and thousands of patients— after her Ph.D.

research on the topic led to a potential breakthrough. She recently obtained her doctorate from the Medical University of South Carolina in Charleston. "It’s kind of crazy," she told FOX Television Stations. "Sometimes it doesn’t even feel real."Gensemer may have found the gene responsible for the group of hereditary connective tissue disorders that could possibly lead to early diagnosis and better treatment.Cortney Gensemer (Credit: Cortney Gensemer) According to the NIH, Ehlers-Danlos syndromes are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen— the protein responsible for healthy joints and skin elasticity, or stretchiness.

Scientists say EDS is caused by mutations in several genes, but the underlying genetic cause remains largely unknown.There are 13 subtypes of EDS generally characterized by joint hypermobility, hyper-stretchable skin, and tissue fragility.Symptoms vary widely and can include an increased range of joint movement, stretchy skin and fragile skin that breaks or bruises easily.Current data suggest the prevalence of EDS is about 1 in 2,500 to 1 in 5,000 people, according to the Ehlers-Danlos Society.Treatment can include physical therapy, pain management and surgery.The long-term outlook for EDS patients varies based on the subtype.