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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

Genetics, epigenetics, cellular electrophysiology and animal models in migraine and allied paroxysmal disorders

IP: Alfons Macaya Ruíz
Collaborators: Marta Vila Pueyo
Funding agency: Fundació Institut de Recerca HUVH
Funding: 42000
Reference: PRED-VHIR-2010-12
Duration: 03/03/2011 - 02/03/2014

Genes y migraña: clonaje posicional en migraña familiar y expresión en la depresión cortical propagada experimental

IP: Alfons Macaya Ruíz
Collaborators: Patricia Pozo Rosich, Susana Boronat Guerero, Miquel Raspall Chaure, Marta Vila Pueyo
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding: 90750.02
Reference: SAF2009-13182-C03-03
Duration: 01/01/2010 - 31/12/2012

Ministerio de Ciencia

Bases genètiques de la malformació de Chiari tipus I.

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 60147.96
Reference: 2011FI_B2 00093
Duration: 01/01/2009 - 31/12/2011

Grup de Recerca en Neurologia Infantil HUVH

IP: Alfons Macaya Ruíz
Collaborators: Susana Boronat Guerero, Francina Munell Casadesus, Miquel Raspall Chaure, Mireia Del Toro Riera, Marta Rebull Santamaria, Mario Marotta Baleriola, Daniel Carranza Rojo
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 41600
Reference: 2009 SGR 78
Duration: 01/01/2010 - 30/04/2014

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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.

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