Master Researcher in Pediatric Rare Diseases

hace 1 día


Barcelona, Barcelona, España Vhir A tiempo completo
Vhir Research Opportunity

We are seeking a highly motivated Master Graduate Researcher to join our TIN-RD group at Vall d'Hebron Pediatric Hospital. Our team aims to promote the implementation of advanced therapies and innovative treatments for pediatric rare diseases, specifically in neurological ultra-rare diseases affecting motor development in children and adolescents.

Research Objectives
  • Perform precise genetic diagnosis of ultra-rare diseases causing motor development disorders in childhood and adolescence.
  • Develop personalized medicine programs based on clinical phenotype and genetic background of patients.
  • Analyze digital and imaging biomarkers to predict best outcomes and select candidates for innovative therapies.

In this project, we will focus on studying predictors of efficacy in children with motor development disorders and dystonia treated with deep brain stimulation (DBS). Our goal is to identify differences between DBS responders and non-responders to determine the best candidates for this therapy.

Methodology
  • Apply innovative technologies such as genome sequencing and optical genome mapping to patients with suspected genetic etiology.
  • Analyze preoperative magnetic resonance imaging studies to identify morphological and microstructural factors predicting DBS efficacy.

We will use advanced segmentation tools and obtain quantitative maps for volumetry and tissue integrity to identify differences between DBS responders and non-responders. This project will contribute to improving quality of life for children with severe motor development disorders.



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