Research Tecnhician (Therapeutics and Innovation in Neuropediatrics and other Paediatric Rare Diseases)

The group aim is to promote the implementation of advanced therapies and innovative therapies of high technological complexity in paediatric rare diseases, specifically in Neurological ultra-rare diseases that impact the motor development of children and adolescents.

The group aims to promote precision diagnosis and precision medicine in children with severe impairment in motor development in order to improve quality of life from early life. We focus our research in three main objectives: (1) to perform a precise genetic diagnosis of ultra-rare diseases causing disorders of motor development in childhood and adolescence; (2) to develop programs for a personalised medicine according to the clinical phenotype and genetic background of our patients; (3) to analyse digital and imaging biomarkers that predict best outcomes and select best candidates for the different therapies offered by the group.