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Alfons Macaya Ruíz

Institutions of which they are part

Head of group
Pediatric Neurology
Vall Hebron Institut de Recerca

Alfons Macaya Ruíz

Institutions of which they are part

Head of group
Pediatric Neurology
Vall Hebron Institut de Recerca

Projects

Bases genéticas de la malformación de Chiari tipo I

IP: Alfons Macaya Ruíz
Collaborators: Susana Boronat Guerero, Mireia Del Toro Riera, Daniel Carranza Rojo
Funding agency: Instituto de Salud Carlos III
Funding: 84216
Reference: PI061606
Duration: 01/01/2007 - 30/09/2010

Genetic basis of Chiari type I malformation

IP: Alfons Macaya Ruíz
Collaborators: Ma Antonia Poca Pastor, Teresa Vendrell Bayona
Funding agency: Fundació La Marató de TV3
Funding: 194125
Reference: MARATV3_062710
Duration: 07/02/2007 - 30/06/2011

Abordaje multidiscipplinar de la epilepsia infantil y aplicación en la caracterización fenotípica de subpoblaciones de pacientes

IP: Alfons Macaya Ruíz
Collaborators: Daniel Carranza Rojo
Funding agency: Instituto de Salud Carlos III
Funding:
Reference: CM05/00076
Duration: 01/02/2006 - 31/05/2009

Papel etiopatogénico del estrés oxidativo mitocondrial en las ataxias cerebelosas familiares. Estudio clínico-molecular de las ataxias episódicas familiares.

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 20349
Reference: PI052129
Duration: 01/01/2006 - 31/12/2006

Related 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.

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