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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

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

IP: Perez Dueñas, Belen
Collaborators: José Antonio Arranz Amo, Josefa Élida Vázquez Méndez, Alfons Macaya Ruíz, 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: Gómez Andrés, David
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, Gómez Andrés, David, Eduardo Fidel Tizzano
Funding agency: Generalitat de Catalunya - Departament de Salut
Funding: 113977.67
Reference: SLT002/16/00174
Duration: 01/01/2017 - 31/12/2019

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

Related news

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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