Establishing UCI’s Center for Excellence Rare Genetic Diseases

Dr. Virginia Kimonis, UCI Medical Professor of Genetics and Metabolism, takes up her collaboration with researchers and clinicians at UCI, focusing on rare diseases, especially muscle and bone genetic diseases. With her extensive career in rare genetic diseases, she makes the case for the National Institutes of Health’s increased funding for precision or individualized medicine. Talking about her medical team’s leading edge diagnostics and treatments, support, and care are: Zack Dumond, with the pediatric onset of Pompe Disease; and David Sweetman, with adult onset of Inclusion Body Myopathy Associated with Paget’s Disease (IBMPFD). This interview is presented in advance of World Rare Disease Month, February 28- March 31. The UCI event for this occasion will be hosted on 2/25/15 from 12:00-2:00pm, at the Bill and Sue Gross Hall/CIRM Institute. RSVP Erika Fisher, 949-824-2886. More information about Dr. Kimonis’ clinics, rare diseases, and upcoming events is available at: UCI Division of Human Genetics and Metabolism and globalgenes.org. David Sweetman generously maintains an encyclopedic website as a resource for the general public: www.ibmpfd.com.