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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

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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Juliana Silva Cardoso

Juliana Silva Cardoso

Research assistant
Pediatric Neurology
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Laura Costa Comellas

Laura Costa Comellas

Predoctoral researcher
Pediatric Neurology
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Lucy Dougherty de Miguel

Lucy Dougherty de Miguel

Research technician
Pediatric Neurology
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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
Juliana Silva Cardoso

Juliana Silva Cardoso

Research assistant
Pediatric Neurology
Read more
Laura Costa Comellas

Laura Costa Comellas

Predoctoral researcher
Pediatric Neurology
Read more
Lucy Dougherty de Miguel

Lucy Dougherty de Miguel

Research technician
Pediatric Neurology
Read more
Blog

News

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.

Over the course of two days, experts presented the latest advances in vectors, different gene modification techniques and their transfer to clinical practice.