Neurosciences
Pediatric Neurology
Alfons Macaya Ruiz
Researchers Francina Munell Casadesús, María José Pérez García, Mireia del Toro Riera, Silvia Ferrer Aparicio, Ana Marcé Grau, Penélope Romero Duque, Miquel Raspall Chaure, Ana Felipe Rucián, Susana Boronat Guerrero
Summary
Our group is focused on the application of NGS to molecular diagnosis and gene discovery in several neuropediatric disorders. In the field of epileptic encephalopathies we have identified novel variants in candidate genes, some of which were screened in zebra fish models. We continued our collaboration within the International Headache Genetics Consortium, the Myo-MRI Cost Action and the UCL-based SYNaPS project, thereby contributing substantial clinical, radiological and genomic data. In the field of neuromuscular disorders, we have demonstrated the beneficial effects of estrogens on myogenesis and inflammation in the mouse model of Dystrophin deficiency, the efficacy of several drugs with read-through action to restore dystrophyn levels in myoblasts and differentiated myotubes of DMD patients carrying nonsense mutations, and the potential use of modified nanopaticles for muscle delivery of specific drugs. Finally, we have demonstrated the superior diagnostic accuracy, speed and cost effectiveness of exome capture and massive sequencing technologies over current approaches for the diagnosis of patients pediatric neuromuscular disorders.