Grupo de Investigación de Genética y Biomarcadores de Enfermedades Raras

Presentación de la unidad de investigación

Molecular bases of rare movement disorders. We aim to determine the causative mutations using genome sequencing (short and long read) in patients belonging to a in depth phenotyped series. We aim to discover novel genes/mutations and mutational mechanisms, and broaden the clinical pictures. Wilson’s disease (WD). WD is caused by mutations in ATP7B, a copper transporter. Our goals are: (i) to identify the microRNA profile useful for prognosis; and (ii) to define the contribution of the microbiome to the clinical picture. Diagnosis of childhood epilepsy. We work with four cohorts: focal, generalised, structural and epileptic encephalopathy. Our goal is to establish the microRNA signature associated with each of these forms to improve the diagnosis and to make possible their stratification.