Master Researcher in Neuropediatrics and Rare Diseases

hace 4 semanas


Barcelona, Barcelona, España Vhir A tiempo completo

Vhir is seeking a highly motivated Master Researcher in Neuropediatrics and Rare Diseases to join our TIN-RD Group.

The group's primary objective is to promote the implementation of advanced therapies and innovative treatments in pediatric rare diseases, specifically in neurological ultra-rare diseases affecting motor development in children and adolescents. Our research focuses on three main areas:

1. Precise genetic diagnosis of ultra-rare diseases causing motor development disorders in childhood and adolescence;
2. Development of personalized medicine programs based on clinical phenotype and genetic background;
3. Analysis of digital and imaging biomarkers to predict outcomes and select candidates for innovative therapies.

In this role, you will work on a project to study predictors of efficacy in children with motor development disorders and dystonia treated with deep brain stimulation (DBS).

DBS is a high-tech neurosurgical procedure that implants electrodes in the globus pallidus internus to stimulate brain circuits involved in dystonia. Our team has completed over 40 DBS surgeries in children with cerebral palsy and rare diseases causing dystonia. Your task will be to identify differences between DBS responders and non-responders to determine the best candidates for this therapy.

The project will involve precision diagnosis using innovative technologies such as genome sequencing and optical genome mapping, as well as analysis of preoperative magnetic resonance imaging studies to identify morphological and microstructural factors predicting DBS efficacy.



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