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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

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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Miquel Raspall Chaure

Miquel Raspall Chaure

Predoctoral researcher
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
Read more
Miquel Raspall Chaure

Miquel Raspall Chaure

Predoctoral 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.