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Pediatric Neurology

The Pediatric Neurology Research group is mainly involved in the study of genetic diseases of the developing nervous system. The main emphasis is on paroxysmal neurological disorders and neuromuscular disorders. A common theme across the different projects, besides the identification of the molecular basis of several of these rare disorders, is the investigation of molecules involved in their pathophysiological mechanisms and the effective translation of these findings into the fields of molecular diagnosis, genetic counselling and newly developed gene or drug therapies.

Team

Sala Coromina, Julia

Sala Coromina, Julia

Research technician
Pediatric Neurology
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Samanes Agreda, Gloria

Samanes Agreda, Gloria

Research technician
Pediatric Neurology
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Urcuyo Delgado, Gabriela

Urcuyo Delgado, Gabriela

Research technician
Pediatric Neurology
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Alfons Macaya Ruíz

Alfons Macaya Ruíz

Head of group
Pediatric Neurology
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Daniel Carranza Rojo

Daniel Carranza Rojo

Senior researcher
Pediatric Neurology
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Francina Munell Casadesus

Francina Munell Casadesus

Main researcher
Pediatric Neurology
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Sala Coromina, Julia

Sala Coromina, Julia

Research technician
Pediatric Neurology
Read more
Samanes Agreda, Gloria

Samanes Agreda, Gloria

Research technician
Pediatric Neurology
Read more
Urcuyo Delgado, Gabriela

Urcuyo Delgado, Gabriela

Research technician
Pediatric Neurology
Read more
Alfons Macaya Ruíz

Alfons Macaya Ruíz

Head of group
Pediatric Neurology
Read more
Daniel Carranza Rojo

Daniel Carranza Rojo

Senior researcher
Pediatric Neurology
Read more
Francina Munell Casadesus

Francina Munell Casadesus

Main researcher
Pediatric Neurology
Read more
Blog

News

The donation will enable further characterisation of patients with this rare disease, the identification of new biomarkers and the exploration of innovative therapies.

The clinical trial, which also involved Vall d’Hebron, shows that the new therapy improves survival by 86% in patients with thymidine kinase 2 deficiency (TK2d).

The ClinPrior algorithm achieved a positive diagnosis rate of 70% in two minority diseases of neurodegenerative origin, which represents double the number of cases that are diagnosed with current tools.