Dr. Francina Munell, principal investigator of the research in http://en.vhir.org/portal1/grup-equip.asp?s=recerca&contentid=186880 Paediatric Neuromuscular Disorders of the Paediatric Neurology Research Group at Vall d'Hebron Research Institute (VHIR) http://www.bigmat.es/noticia/BIGMAT%20ENTREGA%20SUS%20PREMIOS%20SOLIDARIOS%202016 has received the 2016 BigMat award for the research project "Diagnosis optimization of hereditary myopathies by using new technologies of mass sequencing." Among the more than 140 entities registered in this year's contest, it is the first time the award rests on a scientific research project. The award ceremony took place in Madrid, hosted by the actor, director, screenwriter and humorist José Corbacho and attended by about two hundred people. The main objective of the project, explains Dr. Munell, is to ensure that no children with these diseases remain without specific diagnosis and stresses that "getting the specific diagnosis will allow us to better understand the prognosis and predict possible complications." In this sense, the project must also allow the application of specific therapies where they exist, to reduce family distress associated with the absence of specific diagnosis and put them in touch with others affected by the same disease, to perform early genetic counseling and prenatal diagnosis, to decrease the time and cost of diagnosis, and reduce the number of unnecessary tests as well as the need for second and third opinions evidence.Finally, the researchers also aim to increase their knowledge in these pathologies and investigate the possibility of new therapies. Hereditary early-onset myopathies represent a broad and heterogeneous group of genetic diseases, among which are the congenital muscular dystrophies and congenital myopathies. They are rare diseases, difficult to diagnose mainly due to the wide phenotypic-genotypic variability and the number and size of the causative genes.