They work on the hypothesis that some cases of ALS may be due to missing genetic information or excess chromosomes. For that reason they are investigating the specific genes involved in ALS, and the contribution that DNA restructuring makes to the causes of the illness. The group’s main lines of research focus on getting to the bottom of the role genetic information and mutations play in familial ALS in order to find the connection between mutant proteins and their pathological pathways.

The group’s work also consists of looking into the effective biomarkers in the cerebrospinal fluid and the blood, allowing new ALS drugs and treatments to be assessed. As well as amyotrophic lateral sclerosis, the group is working on other peripheral nervous system diseases, such as myasthenia gravis, peripheral myopathies and neuropathies, with the aim of better understanding the clinical, genetic and pathological correlations of these conditions.

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