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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.

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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.

El 20% dels pacients en els quals s’havia trobat alguna predisposició genètica van ser diagnosticats amb algun tipus de tumor i van poder iniciar el tractament de manera precoç.

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PhD Researcher: Pediatric Neurology Research Group
Start date:
20/11/2020
End date:
04/12/2020
Document: Download
Predoctoral (PFIS) - NeurologiaPediàtrica
Start date:
21/01/2019
End date:
21/02/2019
Document: Download
Pre-doctoral investigator - Pediatric Neurology
Start date:
23/09/2018
End date:
01/10/2018
Document: Download