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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

Xarxa R+D+I AGAUR - Acuerdo HUB D’INNOVACIÓ PEDIÀTRICA

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 0.01
Reference: AGAUR/XARXES/2018/MACAYA
Duration: 09/04/2020 - 31/12/2023

Enfermedades minoritarias causantes de degeneración de ganglios basales en pedriatría: implemementación combinada del análisis genómico y de biomarcadores.

IP: Belen Perez Dueñas
Collaborators: José Antonio Arranz Amo, Josefa Élida Vázquez Méndez, Alfons Macaya Ruíz, Anna Marcé Grau, Clara Carnicer Cáceres, Mireia Del Toro Riera, Ana Felipe Rucián
Funding agency: Instituto de Salud Carlos III
Funding: 196020
Reference: PI18/01319
Duration: 01/01/2019 - 31/12/2022

Grups de recerca en Neurologia Pediatrica

IP: Alfons Macaya Ruíz
Collaborators: David Gómez Andrés
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 0.01
Reference: 2017SGR01710
Duration: 01/01/2017 - 31/12/2020

Implementació de la Medicina Personalitzada basada en la Genòmica en Malalties Minoritàries Neurològiques no Diagnosticades

IP: Alfons Macaya Ruíz
Collaborators: Elena García Arumí, Francina Munell Casadesus, Teresa Vendrell Bayona, Ramon Martí Seves, David Gómez Andrés, Implementació de la Medicina Personalitzada basada en la Genòmica en Malalties Minoritàries Neurològiques no Diagnosticades
Funding agency: Generalitat de Catalunya - Departament de Salut
Funding: 113977.67
Reference: SLT002/16/00174
Duration: 01/01/2017 - 31/12/2019

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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