Master Researcher in Pediatric Rare Diseases

hace 4 semanas


Barcelona, Barcelona, España Vhir A tiempo completo

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

The group aims to promote the implementation of advanced therapies and innovative treatments in pediatric rare diseases, specifically in neurological ultra-rare diseases that impact motor development in children and adolescents. Our research focuses on three main objectives:

1. To perform precise genetic diagnosis of ultra-rare diseases causing disorders of motor development in childhood and adolescence.
2. To develop personalized medicine programs 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 master graduate position to study predictors of efficacy in children with motor development disorders and dystonia treated with deep brain stimulation (DBS), a high-technologically innovative therapy implemented at Vall d'Hebron Pediatric Hospital since 2020.

Deep brain stimulation (DBS) is a stereotaxic-based neurosurgical procedure that implants deep electrodes in the globus pallidus internus to stimulate brain circuits involved in the origin of dystonia. After completing more than 40 DBS surgeries in children suffering from cerebral palsy and rare diseases causing dystonia, we offer a master internship to study predictors of efficacy among different variables (genetics, phenotypic, and neuroimaging).

The aim of this project is to identify differences between DBS responders and non-responders to identify the best candidates for DBS. The project will focus on two main objectives:

1. To perform precision diagnosis by applying innovative technologies, such as genome sequencing and optical genome mapping, in patients with a high suspicion of genetic etiology after routine genetic testing methods have been non-conclusive.
2. To analyze preoperative magnetic resonance imaging studies morphological and/or microstructural factors in different brain regions capable of predicting the clinical efficacy of DBS.

We will use advanced segmentation tools and obtain quantitative maps for volumetry (T1 sequences) and tissue integrity (DTI) to identify differences between DBS responders and non-responders.

Education and Qualifications:
Required:
• Bachelor's Degree and Master in a Biosciences-related field.
• Good academic records.
• Good communication skills in English.
Desired:
• Experience in clinical and/or basic research in biomedicine.
• Experience in neurosciences and biocomputational science.
• Experience and Knowledge:
• Experience in common molecular techniques.



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