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15/11/2016

Revolutionize the future of neuromuscular diseases

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15/11/2016

Normal1 The genetic research opens up great hopes in the treatment of these diseases.

Normal1 The research in the field of neuromuscular diseases currently faces a promising future. Researchers rely achieving new discoveries in genetics that could revolutionize and give a new vision to the treatment of these diseases in the next 10-20 years. Their big Achilles heel is the investment needed to get there, as it is about expensive drugs that should be able to reach all those who need them. Normal1 In this field, the Vall d'hebron Research Institute (VHIR) has three research groups working on it. One is lead by http://bit.ly/2eFBLT3" Dr. Josep Gámez and focuses on the genetic and molecular mechanisms of amyotrophic lateral sclerosis, other diseases of motor neurons and myasthenia gravis, genetic neuropathies and myopathies diseases, among others. The second is lead by http://bit.ly/2eW9eK2" Dr. Alfons Macaya and Dr. Francina Munell and treats paediatric neuromuscular diseases, with lines of research devoted to the study of the molecular and genetic bases of motor neuron diseases, neuropathies and myopathies genetically determined, among others. Finally, http://www.vhir.org/portal1/grup-presentacio.asp?s=recerca&contentid=186863&idrefer=186864 Dr. Ramon Martí leads the Group of Neuromuscular and Mitochondrial Pathology, specializing in the study of the pathogenic mechanisms of DNA mutations associated with various neuromuscular diseases. Vall d'Hebron, reference centre Normal1 The Vall d'Hebron Barcelona Hospital Campus keeps for more than 20 years its commitment to offer an integrated and multidisciplinary care to patients with neuromuscular diseases. For this reason, it has the only unit in Catalonia that serves adult patients and paediatric and accompanies them through the transition to adulthood and that, at the same time, it covers all aspects related to their diseases. These are patients with a strong dependence on the health system and the health centres, especially of the family doctor, the teams of health care and the professionals of the Vall d'Hebron, mainly neurologists and neuropediatricians, working together with pulmonologist, nutritionists, rehabilitators and neuropsychologists, among manyother specialists. Today, November 15th is the National Day of Neuromuscular Diseases. Normal1 The Neuromuscular and Rare Diseases Unit of Vall d'Hebron is, since 2015, one of the leading centres of the country (CSUR) in these pathologies. It is also a member of the European Reference Network for Neuromuscular Diseases (ERN-NMD). Led by http://bit.ly/2fFo1dr" Dr. Josep Gamez, Dr. Francina Munell, Dr. Alfons Macaya and Dr. Maria Salvadó, serves about 3,000 patients each year, of which over 500 are first visits. Its aim is to provide clinical care, multidisciplinary, comprehensive and coordinated to patients by working to improve the performance and diagnostic biomarkers and identifying new targets for treatment. Its purpose is to extend the life expectancy of patients and improve their quality of life and that of their families.More than 300 diseases Normal1 The unit treats more than 300 different neuromuscular diseases, notably amyotrophic lateral sclerosis (ALS) and various forms of spinal muscular atrophy. Also Hirayama's disease, Kennedy's disease, muscular dystrophies, including variants congenital, autoimmune myasthenia gravis and congenital myasthenic syndromes, neuropathies, myopathies and many others, including rare diseases, such as those low prevalence genetic diseases in which part of the symptoms are expressed in a neuromuscular way.

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