The Norris Lab
Medical University of South Carolina
About the Lab:
The Norris lab is a multidisciplinary environment with students and postdocs using molecular, biochemical and biomechanical tools to understand common and rare connective tissue diseases. We have spent the past 25 years understanding genetics of syndromic and non-syndromic cardiovascular diseases like mitral valve prolapse, aortic stenosis, bicuspid aortic valve diseases and cardiomyopathies. Recently, we identified a very strong candidate gene for hypermobile Ehlers-Danlos syndrome, a "not so rare" connective tissue disease that affects collagen-rich tissues. Using state of the art CRISPR-Cas9 mediated genome editing, we successfully generate mouse models of human diseases to study how the various diseases initiate and progress. Understanding the mechanisms that cause altered biology has led to development of druggable pathways that are at various stages of development to treat mitral and aortic valve diseases as well as hypermobile EDS. We have developed IRB approved clinical registries for some of these diseases and actively recruit patients to build out our genetic discoveries. Ultimately, we are developing platforms that will lead to off-the-shelf personalized medicine treatment for these rare and common diseases.