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 offer a four-months Research Technician position to
support the 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 focuses on studying the molecular mechanisms underlying the
disease through analysing expression, methylation and location of
SGCE in different tissues of mice and human. Also, clinical
research is done in order to study genotype-phenotype correlations
and treatment response variability. Education and qualifications:
Required: Bachelor’s Degree and Master in Biosciences related field
Animal Testing and Research certification Good communication skills
in English and Spanish Experience and knowledge: Required (at least
3 years): Experience working with disease mice models Experience in
genetic analysis Experience in handling human biological samples
Experience in clinical and/or basic research in biomedicine.
Experience in neurosciences Experience working in common molecular
techniques Desired: Strong training or hand-o
📌 Research Tecnhician (Cataluña)
🏢 VHIR
📍 Cataluña