TGen Uses Personalized Whole-Exome Sequencing to Successfully Determine Genetic Causes of Six Rare, Difficult-to-Diagnose, and Difficult-to-Treat Neuromuscular Disease (NMD) Cases

Scientists at the Translational Genomics Research Institute (TGen) in Arizona, using state-of-the-art genetic technology, have discovered the likely cause of a child's rare type of severe muscle weakness. The child was one of six cases in which TGen sequenced -- or decoded -- the genes of patients with neuromuscular disease (NMD) and was then able to identify the genetic source, or likely genetic source, of each child's symptoms, according to a study published online on April 8, 2015 in the journal Molecular Genetics & Genomic Medicine. The article is titled “Novel Pathogenic Variants and Genes for Myopathies Identified by Whole Exome Sequencing.” According to the researchers, “neuromuscular diseases (NMDs) account for a significant proportion of infant and childhood mortality and devastating chronic disease. Determining the specific diagnosis of NMD is challenging due to thousands of unique or rare genetic variants that result in overlapping phenotypes.” "In all six cases of myopathy, or muscle weakness, these children had undergone extensive, expensive and invasive testing -- often over many years -- without a successful diagnosis, until they enrolled in our study," said Dr. Lisa Baumbach-Reardon, an Associate Professor of TGen's Integrated Cancer Genomics Division and the study's senior author. This is a prime example of the type of "personalized medicine" TGen uses to zero in on diagnoses for patients, and to help their physicians find the best possible treatments. "Our results demonstrate the diagnostic value of a comprehensive approach to genetic sequencing," said Dr. Baumbach-Reardon. "This type of next-generation sequencing can greatly improve the ability to identify pathogenic, or disease-causing, genetic variants with a single, timely, affordable test."
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