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. VHIR is offering a position for a graduate in medicine
to participate in the study the molecular basis of SGCE myoclonus
dystonia. Our group has been collecting a cohort of patients




affected by this disorder. The project focuses on studying the
molecular mechanisms underlying the disease through analysing
expression and methylation of SGCE. Also, clinical research is done
in order to study genotype-phenotype correlations and treatment
response variability Education and qualifications: Required:
Bachelor’s Degree in Medicine Paediatric residency training
completed Fluency in Spanish and English Desired: Additional
training in paediatric neurology International training experiences
Previous experience in research Experience and knowledge: Required
(at least 3 years): At least 4 years of experience working in a
Paediatrics department of a tertiary-level hospital Ability to
manage clinical and genetics databases Desired: Knowledge of
characteristics of movement disorders in paediatric patients
Knowledge of statistics tools Main responsibilities and duties:
Keep track of all the pa

📌 Research Technician (Cataluña)
🏢 VHIR
📍 Cataluña