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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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Grup de Recerca en Neurologia Pediàtrica
Start date:
14/09/2012
End date:
17/09/2012
Document: Download
Grup de Recerca de Neurologia Infantil-Personal Tècnic de Laboratori
Start date:
26/07/2012
End date:
01/08/2012
Document: Download
Grup de Recerca de Neurologia Infantil-Personal Tècnic de Laboratori
Start date:
25/07/2012
End date:
31/07/2012
Document: Download