Neuromuscular diseases from genomics to clinics and functions: the role of European Reference Networks in research and diagnosis

Advances in understanding the genomics of neuromuscular diseases have been outstanding in recent years and have promoted the design and availability of new therapies and drugs. This issue of Frontiers in Neurogenomics aims to describe the European Reference Network Euro-NMD’s recent activities and the main achievements gained through its outstanding work, which has provided a better understanding of genome function and its regulation in neuromuscular diseases and how this knowledge has prompted the discovery of new diagnostics, functional circuits, and treatments.The goal is to present a comprehensive overview of the knowledge on genome shape, function, and regulation in neuromuscular diseases, how genetic factors impact these functions and clinical features, and how genomic research has opened several fields of investigation, such as diagnosis, mechanism profiling, and new therapies. Topic editors: Alessandra Ferlini Source: https://www.frontiersin.org/research-topics/84769/neuromuscular-diseases-from-genomics-to-clinics-and-functions-the-role-of-european-reference-networks-in-research-and-diagnosis