Translational research in neurogenetic diseases (NRGEN)

The team gathers together researchers interested in a continuum of overlapping neurogenetic disorders covering spinocerebellar degenerations (ataxias, spastic paraplegias), motor neuron diseases (amyotrophic lateral sclerosis, hereditary spastic paraplegias, neuropathies) and neurodegeneration with brain iron accumulations (NBIA).
Our goal is to dissect the molecular bases of these neurogenetic diseases with the long-term goal of developing specific therapies, which are lacking for almost all of them. To this end, we use a combination of genetic analyses (exome, genome, repeat expansion detection), phenotype-genotype correlations, biomarker searches and functional analyses (cellular, yeast and mouse models).