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You will be updated with latest job alerts via emailThe group aim is to promote the implementation of advanced therapies and innovative therapies of high technological complexity in pediatric rare diseases specifically in Neurological ultrarare 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 ultrarare diseases causing disorders of motor development in childhood and adolescence; (2) to develop programs for a personalized medicine according to the clinical phenotype and genetic background of our patients; (3) to analyze digital and imaging biomarkers that predict best outcomes and select best candidates for the different therapies offered by the group.
In this call we offer a PhD Student position to study the molecular basis of SGCE myoclonus dystonia. Our group has been collecting a cohort of patients affected by this disorder and we have developed a mice model for the disease. The project will focus on studying the molecular mechanisms underlying the disease through analyzing expression methylation and location of SGCE in different tissues of mice and human. Also clinical research will be done in order to study genotypephenotype correlations and treatment response variability.
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Full Time