Amyotrophic Lateral Sclerosis (ALS) is a fatal disease that produces progressive neurodegeneration. Great efforts have been dedicated to find a cure for this disease with no success up to date.

The precise molecular mechanisms responsible of ALS remain unknown. However, mutations in several genes have been identified in the genome of affected individuals. Among the genetic defects related to ALS found so far, one of them appears in a higher proportion of cases: a mutation in the C9ORF72 gene. This gene contains a sequence of six nucleotides (5’-GGGGCC-3’/3’-CCCCGG-5’) which appears massively repeated in a high proportion of ALS patients. It has been proposed that this defect in C9ORF72 gene contributes to the disease through the toxicity mediated by transcription of RNA containing the expansion of the repeated motif.

Combat_ALS action aims to characterize in detail the structure of the repeat-containing RNAs resulting from the mutated C9ORF72 gene and to develop molecules to counteract the deleterious effects produced by their presence in affected cells. Two kinds of molecules are being developed: (I) antisense oligonucleotides (ASO) and (II) small organic compounds with affinity for the RNAs.

Schematic view of the “Combat_ALS” action.


This action is possible thanks to the funding received from the European Union's Horizon 2020 Research and Innovation Programme under the Marie Sklodowska-Curie Grant Agreement Number: 799693.