Utah Program for Inherited Neuromuscular Disorders

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.

Our partnership with the Department of Human Genetics has given us the opportunity to operator out of our own CLIA Certified Lab.

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.

 

Gene Therapy

o What is Gene Therapy:
o We do Gene Therapy clinical trials
o Only center in the Mountian West providing therapy/treatment for SMA

Clinical Trials

  • Speciailize in clinical trials for genetic therapy and rare neuromuscular disorders
    (give a couple examples
  • Have led to FDA approval of three drugs for Exon skipiing and DMD, 2 genetic
    therapies for SMA

Clinical Research

  • Melissa Research
  • MOVE
  • RESOLVE
  • MDSTARnet
  • We are apart of the Clinical research FSHD CTRN Clinical Research Trials network

Laboratory Research

  • Myotonic dystrophy study
  • Screened 50,000 blood spots
  • New FSHD paper
  • Utah FSHD Family
  • Col6
  • New grant from orphan disease center
  • Find logo or link!
  • We specialize in studies of understanding genetic modifiers of severity in muscular dystrophy

Education Outreach

▪ UPIN Family Day
▪ DMD Family Day
▪ FSHD Upcoming Article – Stephen Dark
▪ CV Outreach
▪ Walk n Roll

Patient Care

▪ Multi-disciplinary neuromuscular clinic at Primary, Shriners, U of U
▪ Comprehensive care for patients with neuromuscular disease includes neurology,
pulmonology, genetic counseling, and nutrition, ….
▪ Novel genetic therapies for SMA, Duchenne, and FA for patients across the
intermountain west
▪ PPMD certified Duchenne Care Center
▪ MDA certified Care Center
▪ CMT Association of Excellence
▪ CureSMA Care Center
• Include links

“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)

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