Our laboratory, in the Neuromuscular Disorders Unit of the Neurology Department, has a twenty-year history of providing clinical care and research in amyotrophic lateral sclerosis (ALS) and other motor neuron diseases (hereditary spastic paraplegias, postpolio syndrome, Hirayama’s disease, spinal muscular atrophies), myasthenia gravis, genetically determined myopathies, and peripheral neuropathies.
We believe 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. Our research aims to ascertain the specific genes involved in ALS, and the contribution of DNA rearrangements in causing the disease. As a result, our 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.
We are currently investigating the role of signaling genes in the pathogenesis of familial and sporadic forms of ALS. Our 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. Our 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.
For more information about our research, press the next link: VHIR