ALS_SOD1_C9ORF72

Amyotrophic lateral sclerosis (ALS) is the most common degenerative disorder of the motor neuron system. The disease is characterized by motor neuron degeneration in the primary motor cortex, brainstem and spinal cord. Although the genetics of ALS has been partially defined, it is currently not known whether the roles of aforementioned proteins in motor neuron degeneration is through one common or numerous separate pathways. The main objective of the project is to determine the biological effects of mutations and novel rare genetic variants, especially those not linked previously to amyotrophic lateral sclerosis (ALS). The longterm goal of the project is to identify new cellular pathways dysfunction of which may be involved in ALS pathophysiology. The practical aim of the project is to develop a method combining the detection of causative genetic variants with the determination of their functional effect at the level of the cell and the organism and with their impact on clinical phenotype. Whole-exome studies revealed several novel genetic variants providing new possible pursuits in ALS research. Regarding that, one of aim of this project will be to verified contribution of the listed above genes in ALS pathology.