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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

María Delgado Muñoz

María Delgado Muñoz

Research technician
Pediatric Neurology
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Marta Riba Barroso

Marta Riba Barroso

Research technician
Pediatric Neurology
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Rebecca Herzog

Rebecca Herzog

Research technician
Pediatric Neurology
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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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María Delgado Muñoz

María Delgado Muñoz

Research technician
Pediatric Neurology
Read more
Marta Riba Barroso

Marta Riba Barroso

Research technician
Pediatric Neurology
Read more
Rebecca Herzog

Rebecca Herzog

Research technician
Pediatric Neurology
Read more
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
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.