Utah Program for Inherited Neuromuscular Disorders
The era of genomic medicine has begun, and we expect that it will continue to challenge long held models of medical practice. – Genetics in Medicine (2013)
Our Mission
Our mission at UPIN is to improve the lives of men, women, and children with inherited nerve or muscle disorders through cutting edge, multidisciplinary care and translational research.
The Utah Program for Inherited Neuromuscular Disorders focuses on translational research in muscular dystrophies, inherited neuropathies, and spinal muscular atrophy. This means that our team of researchers takes information learned in cell culture and other model systems to develop a better understanding of these diseases and applies that knowledge back to study participants and clinic patients. Specific projects that are currently ongoing include a study to understand how myotonic dystrophy progresses during childhood, and RNA splicing experiments to understand the disease mechanism in childhood. We also participate in a surveillance program for muscular dystrophies using the Utah Population database. Finally, we conduct a number of therapeutic trials aimed to treat inherited nerve and muscle disorders. Overall, the research program benefits from diverse expertise aimed at treating these debilitating conditions.
Our partnership with the Department of Human Genetics has given us the opportunity to operate out of our own CLIA Certified Lab.
University of Utah 2024