Ehlers-Danlos Syndromes (EDS) are a group of rare and debilitating conditions affecting the structure and function of collagen in tissue, leading to hypermobile joints that dislocate easily, elastic and fragile skin, and chronic pain.
Hypermobile EDS (HEDS) accounts for about 90% of EDS cases and is thought to affect at least 1 in 3,100-5,000 people, according to the Ehlers-Danlos Society. It is currently classified as a rare disorder, but the true prevalence is not known and may be underestimated as there are no genetic diagnostic markers. Diagnosis can be difficult, and many patients suffer for years before receiving an explanation for their symptoms.
Dr. Laurent Bozec, Professor in the Faculty of Dentistry and cross-appointed in the Department of Laboratory Medicine and Pathobiology, Temerty Medicine, hopes to change the diagnosis and understanding of EDS by understanding structural differences in the collagen.
EDS is primarily a collagen disorder, and to date, little has been done to understand the relationship between collagen’s abnormal structure and its loss of function as found in EDS tissues.
His lab, with colleagues from the UHN GoodHope Clinic have just received funding from the Canerector Foundation to progress this research by exploring this relationship at the sub-micron scale in dermal tissues.