EDS Gene Mutation Discovery

MUSC researchers announce gene mutation discovery associated with EDS

Read in News Center
Camille Schrier, Miss America 2020, works with a sample under the supervision of lead researcher Cortney Gensemer. Schrier, who has EDS, came to tour the lab and learn about the gene mutation discovery the Norris team has made. Photo by Sarah Pack

Research at MUSC

The Medical University of South Carolina is dedicated to engaging community members in all aspects of the research process. Research and discovery programs at MUSC promote health, reduce the risk of illness and disease, and build community resilience. Our discoveries are transforming health care outcomes across South Carolina and beyond.

Research Highlights

MISC-C in Children

Dr. Elizabeth Mack with a pediatric patient

A team of pediatricians at MUSC Children’s Health contributed to a nationwide study of effective treatments for multisystem inflammatory syndrome (MIS-C), a novel COVID-19-associated disease found in children and adolescents. The results of the study, published in the New England Journal of Medicine, show that a combination of steroids and intravenous immunoglobulin (IVIG) is effective against MIS-C.

In the News

A doctor looks at a PET brain scan at the Banner Alzheimer’s Institute in Phoenix on Aug. 14, 2018. Harmful proteins build up in the brains of people with the disease. File/Matt York/AP

MUSC, Harvard research shows promise in Alzheimer’s and dementia treatment.

Featured Researcher

Dr. Sophie Paczesny stands at a counter in her lab and works with test tubes

Born in France, Sophie Paczesny, M.D., Ph.D., of MUSC's Department of Microbiology and Immunology, gives her personal reflections on the contributions of immigrants to biomedical research in the US.