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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

Refuerzo del Personal Técnico de la Línea Transversal en Enfermedades Raras del Vhir

IP: Alfons Macaya Ruíz
Collaborators: Laia Perez Lasarte
Funding agency: Ministerio Economía, Industria y Competitividad
Funding: 39200
Reference: PEJ-2014-A-51663
Duration: 19/11/2015 - 19/11/2017

Exome sequencing of early epileptic encephalopaties data analysis

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 39231.52
Reference: 2010 BP_A2 00025
Duration: 27/10/2014 - 26/10/2015

Neurologia Pediàtrica (GRC)

IP: Alfons Macaya Ruíz
Collaborators: Susana Boronat Guerero, Francina Munell Casadesus, Neurologia Pediàtrica (GRC), Anna Marcé Grau, Miquel Raspall Chaure, Mireia Del Toro Riera, Marta Vila Pueyo
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding:
Reference: 2014 SGR 1087
Duration: 01/01/2014 - 31/12/2016

Secuenciación exómica en el estudio molecular de las encefalopatías epilépticas de inicio precoz

IP: Alfons Macaya Ruíz
Collaborators: Anna Marcé Grau
Funding agency: Fundació Institut de Recerca HUVH
Funding: 46800
Reference: PRED-VHIR-2014-2
Duration: 16/02/2015 - 15/02/2018

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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