Cortney Gensemer, Medical University of South Carolina

Cortney Gensemer, Postdoctoral Fellow at the Medical University of South Carolina

Abstract

The Ehlers-Danlos Syndromes (EDS) are a group of poorly recognized connective tissue disorders, impacting approximately 1 in 500 individuals. Symptoms manifest across multiple body systems, often leading to compromised quality of life, persistent pain, and disability. As a postdoctoral scholar in the lab of Dr. Chip Norris at MUSC, our work is focused on genetic, molecular, and clinical efforts to decipher the underlying pathophysiology of EDS, specifically focusing on the hypermobile subtype (hEDS).

Our research encompasses genetic investigations including whole exome and genome wide association studies, multi-omic approaches and the development of genetically accurate animal models to serve as tools for diagnostic and therapeutic discoveries. These efforts are integrated with clinical collaborations facilitating translational research discoveries.

Drawing from personal experience as an individual affected by hEDS myself, our initiatives have led to the establishment of patient-scientist training programs, aligning patient perspectives with scientific inquiry, enhancing inclusivity, fostering accessibility, and embracing diverse viewpoints in research efforts. Our commitment also extends to scientific communication and advocacy efforts to bridge gaps between patient, provider, research and legislative efforts, to improve clinical care, education and funding for EDS research.

Join us on Monday, September 30 at 1:30 PM in Stephens Room (3503 Thomas Hall) and ZOOM for the Genetics and Genomics Seminar Series. REGISTER to attend Zoom: https://ncsu.zoom.us/meeting/register/tJUufu2rrDwuGtMzQ2ivMoBl4_LJ-eSGAZ4q

No registration is required to attend In-Person