Location: Medical University of South Carolina, 68 President Street, Bioengineering Building, Room 110, Charleston, SC 29403
Time: 5:30 p.m. Patient to patient discussion group
6:30 p.m. Break
7:00 p.m. Lecture
Expert Speaker: Dr. Chip Norris
Topic: Research updates from the Norris Lab on hypermobile Ehlers-Danlos syndrome diagnostics, advocacy, and other stuff
Dr. Russell (Chip) Norris, Ph.D. is a tenured professor of medicine in the department of Regenerative Medicine and Cell Biology at MUSC.The Norris lab is a multidisciplinary environment with students and postdocs using various genetic, molecular, biochemical and biomechanical tools to understand common and rare connective tissue diseases. The lab has spent the past 25 years understanding the genetics of various syndromic and non-syndromic cardiovascular diseases such as mitral valve prolapse, aortic valve diseases and cardiomyopathies. Recently, we identified a very strong candidate gene for hypermobile Ehlers-Danlos syndrome (hEDS). Armed with a large hEDS patient registry, four clinical coordinators and one of the largest hEDS research labs, we are exerting a concerted effort towards understanding causes of hEDS and associated co-morbidities. Using state of the art CRISPR-Cas9 mediated genome editing, we generate mouse models of human diseases to study how connective tissue diseases initiate and progress.