KEYWORDS Genomics Genetics & Heredity Neurosciences Scientific summary Through positional cloning strategy, J Melki’s team identified SMN, the gene responsible for childhood spinal muscular atrophy (SMA, Lefebvre et al. 1995, 1997). J Melki’s team generated and characterized transgenic mouse lines expressing the Cre recombinase in skeletal muscle, neurons or liver in order to direct a gene mutation in these tissues using the Cre-LoxP system. Using this approach, they created mouse models of SMA and spastic paraplegia (Frugier et al. 2000, Cifuentes-Diaz et al. 2001, Nicole et al. 2003, Vitte et al. 2007, Tarrade et al. 2006). J Melki’s team performed a whole genome association study in 229 french amyotrophic lateral sclerosis patients, one of the most devastating adult motor neuron diseases in collaboration with Pr. V. Meininger and Dr M. Lathrop using SNP microarrays (Landers, Melki, et al. 2009).