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

Research lines

Pediatric neurogenetics

Neurogenetics of paroxysmal neurological disorders (neuronal channelopathies)

Genetic and epigenetic basis of neural tube defects and Chiari type I malformation

Clinical researchers have collected samples from more than 2000 patients with paroxysmal neurological disorders (migraine, epilepsy, paroxysmal movement disorders and episodic ataxias) and over 300 patients with Chiari I malformation. Current strategies include whole-genome linkage analysis, exome sequencing, customized array re-sequencing, SNP-based genetic association studies and expression analysis in fetal tissues. The goals in this area are:

- to identify novel genetic variants responsible for these diseases

- to establish a correlation between the genetic variants and the clinical forms of the disease

- to perform functional studies of the mutant proteins

- to design an animal model of cortical spreading depression, with emphasis in epigenetic modification of susceptibility genes.

IP: Alfons Macaya Ruíz

Projects

KIDS Vall d'Hebron: Jóvenes Impulsando la Ciencia Ciudadana y la Comunicación Científica

IP: Lucas Moreno Martín-Retortillo
Collaborators: Marina Martínez Jiménez, Alfons Macaya Ruíz, Anna Santamaria Margalef, Pere Soler Palacín, Ana Marti Delgado, Sara Mas Assens, Immaculada Hernández Rodríguez
Funding agency: Fundación Española Ciencia y Tecnología (FECYT)
Funding: 25000
Reference: FCT-24-21771
Duration: 01/09/2025 - 31/08/2026

HUB D'INNOVACIÓ PEDIÀTRICA - I4KIDS

IP: Ramon Martí Seves
Collaborators: Alfons Macaya Ruíz, Lucas Moreno Martín-Retortillo
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 0.01
Reference: 2022 XARDI 00006
Duration: 01/01/2023 - 31/12/2025

Neurologia infantil

IP: Alfons Macaya Ruíz
Collaborators: Laia Ventura i Expósito, Belen Perez Dueñas, Laura Costa Comellas, Francina Munell Casadesus, Anna Marcé Grau, Miquel Raspall Chaure, Mireia Del Toro Riera, Julia Sala Coromina, Ana Felipe Rucián, Ana Laura Cazurro Gutierrez, David Gómez Andrés, Amaia Lasa Aranzasti, Lucy Dougherty de Miguel
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 0.01
Reference: 2021 SGR 01171
Duration: 01/01/2022 - 30/06/2025

Evaluation of NGS candidate genes causality in developmental epileptic encephalopathiea

IP: Alfons Macaya Ruíz
Collaborators: Anna Marcé Grau, Miquel Raspall Chaure, Mireia Del Toro Riera, Julia Sala Coromina, Ana Felipe Rucián
Funding agency: Instituto de Salud Carlos III
Funding: 196020
Reference: PI20/01803
Duration: 01/01/2021 - 31/12/2023