07/05/2012

Amyotrophic lateral sclerosis (ALS) affects 600 people between 40 and 70 years in Catalonia. This disease doesn't have a definitive treatment and those who suffer it have a life expectancy of 5 years. Dr. Josep Gámez, responsible of the peripheral nervous system group at Vall d'Hebron Research Institute (VHIR) explains to TVE the characteristics and the situtation of the research on this disease, on which still are unknown the concrete reasons. This research group works in a worldwide clinical trial Phase II for a new drug.The Neuromuscular Disorders Unit of the Neurology believes that some ALS cases may be due to missing or surplus genetic information in the chromosomes, which are the structures in each cell that package an individual’s genetic information. Their research aim is to ascertain the specific genes involved in ALS, and the contribution of DNA rearrangements in causing the disease. As a result, the main research lines are Molecular Mechanisms of ALS, and Genetic Mutations in Familial ALS, including predisposing or modifying gene factors. Despite the fact that several major genes are known to cause ALS, the precise connection between mutant proteins and their pathological pathways is uncertain.This group is currently investigating the role of signaling genes in the pathogenesis of familial and sporadic forms of ALS. Their work also involves searching for effective biomarkers in blood and CSF which enable assessment of new candidate drugs for treatment of this devastating disease. The success of translational medicine depends on the results in animal models, and biomarkers of the disease’s progression are therefore important tools for new therapies in humans. Their research is also currently focused on myasthenia gravis, myopathies and peripheral neuropathies in order to achieve a better understanding of the clinical, genetic and pathological correlations of these diseases.