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Integrated Omics Technologies for Patients with Genetic Neuromuscular Diseases Volker Straub The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, United Kingdom Genetic neuromuscular diseases (NMD) have a wide phenotypic spectrum, show an enormous genetic heterogeneity, are usually incurable and can be associated with severe complications including sudden death. In the past 25 years the strategies and methods applied have allowed us to identify neuromuscular disease genes mainly in larger families and for more frequently occurring genetic conditions. Using cost- and time-intense step-by-step single gene approaches only the most frequent genetic causes and patients with characteristic phenotypes are normally being tested, leaving many patients with very rare and clinically unspecific NMD without a precise diagnosis. Depending on the health system and local access to diagnostic tools, between 30-80% of neuromuscular patients in Europe remain undiagnosed. As a precise genetic diagnosis is a prerequisite for the monitoring of disease complications, the counselling of families and therefore the overall quality of life and life expectancy of a patient, it is a major challenge to identify the genetic cause for all patients with NMD. Since the identification of the first gene associated with a genetic muscle disease, namely Duchenne muscular dystrophy, an extensive body of research into genetics and pathogenesis has resulted in the identification of genetic defects responsible for over 750 NMD, revealed an increasingly varied phenotypic spectrum, and exposed the need to move towards a new systems-based understanding of the conditions in terms of the molecular pathways affected. New omics technologies including whole-exome and whole-genome sequencing are continuing to expand the range of genes and phenotypes associated with NMD, and new computational approaches are helping clinicians move into this new genomic medicine paradigm. However, 30 years on from the DMD gene discovery, no curative therapies exist for any form of NMD, and systematic exploration of their natural history is still lacking. In order that basic research can be more rapidly translated to the clinic, well-phenotyped and genetically characterized patient cohorts are a necessity, and appropriate outcome measures and biomarkers must be developed through natural history studies. International collaborations are now addressing these translational research issues and are already showing that the identification of novel NMD genes can facilitate personalized medicine, advance and standardise NGS diagnosis, reduce ineffective interventions and burdensome investigations, improve standards of care for patients and the development of target–driven therapies.