With intermittent episodes of paralysis and stiffness.

‘This discovery is usually a testament to the power of the next-era sequencing technologies, which have become increasingly available as a result of the Human Genome Project,’ says co-writer Lynn Jorde, Ph.D., professor and chair of the U of U Department of Individual Genetics. ‘These technologies are rapidly revolutionizing our capability to diagnose uncommon disorders, and offer hope for hundreds of groups of children with uncommon disorders about which little is known and no targeted treatments currently exist.’.. ATP1A3 gene mutations responsible for alternating hemiplegia of childhood Alternating hemiplegia of childhood is a uncommon disorder that usually begins in infancy, with intermittent episodes of paralysis and stiffness, first affecting one part of the body, then the other.Massively parallel sequencing technology right now provides a method of systematically discovering the genetic alterations that underlie disease and identifying fresh therapeutic targets and clinically predictive biomarkers. To day, most studies made to discover tumor-linked mutations possess relied on sequencing the genome or exome of only a few tumors; the newly uncovered mutations detected are after that further studied within an expanded cohort. These efforts have led to the identification of several important disease-connected mutations.4-6 A far more powerful approach to the procedure of preliminary discovery is to sequence a much larger group of samples.7,8 This process increases the chances that the entire range of mutated genes will be detected, allows reconstruction of the genetic pathways underlying disease pathogenesis, and reveals associations between genetic events and the clinically important top features of a disease.