A not so rare whole body disease that transcends scientific and clinical specialties
The Norris lab studies connective tissue development and diseases and for the past 25 years researched the genetics of syndromic and non-syndromic cardiovascular diseases like cardiomyopathies. Recently, the Norris lab pivoted to understanding hypermobile Ehlers-Danlos syndrome (hEDS), a "not so rare" connective tissue disease that affects collagen-rich tissues. Using genome editing, mouse models of hEDS were generated to study disease initiation and progression. Guided by one of the largest clinical registries for hEDS, the Norris lab captures important clinical information and patient samples that can be used to improve diagnosis and genetic discoveries, respectively. This talk will focus primarily on background of hEDS, our recent work with hEDS and how involving patients in the research is changing the future of our understanding and treatment of this disease.
This webinar is free and open access for both members and nonmembers.
Dr. Russell (Chip) Norris, Medical University of South Carolina
Dr. Norris is a professor in the department of Regenerative Medicine and Cell Biology at MUSC. Originally from Cincinnati, Ohio, he graduated from MUSC in 2000 with a PhD in biomedical sciences with a focus on genetics and molecular biology. Following two postdoctoral fellowship at MUSC he was recruited in 2007 to stay at MUSC and open his research lab. In past 15 years, Dr. Norris rose precipitously through the ranks and has now become full professor with tenure in the department of regenerative medicine and cell biology. His large and integrated lab has orchestrated significant breakthroughs in the fields of genetics and connective tissue disease with papers in Science, Circulation, Nature Genetics and Nature. Through trans-Atlantic collaborations, Dr. Norris has become recognized globally for his work and vision and is frequently a sought after speaker. He has published over 100 scientific articles and has given >200 talks globally. He has a strong dedication to student training and has mentored >100 students either directly or in his capacity as former graduate coordinator. He has a 100% success rate for independent student funding and nearly all graduates have gone on to obtain impressive leadership positions in both academia and industry.
Dr. Cortney Gensemer, Medical University of South Carolina
Cortney is a postdoctoral scholar from Lancaster, Pennsylvania. Cortney graduated from West Chester University of Pennsylvania in 2018 with a bachelor's in Pharmaceutical Product Development. She acheived her PhD in the Norris lab in 2022. Her current research is focused on the genetic and molecular mechanisms of hypermobile Ehlers Danlos Syndrome (hEDS). She hopes to advance diagnostic tools to accurately diagnose hEDS and develop therapies to treat the disease. Beyond basic science, Cortney aims to transform clinical care for hEDS patients through the development of a multidisciplinary EDS clinic made up of clinical experts on the disease. Cortney is also a member of the alliance for disability advocacy at MUSC and is an outspoken advocate for disabilities in STEM.
Paul Trainor, Ph.D., Stowers Institute for Medical Research
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