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Alfons Macaya Ruíz

Institutions of which they are part

Head of group
Pediatric Neurology
Vall Hebron Institut de Recerca

Research lines

Pediatric neurogenetics

123 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

Evaluation of NGS candidate genes causality in developmental epileptic encephalopathiea

IP: Alfons Macaya Ruíz
Collaborators: Miquel Raspall Chaure, Mireia del Toro Riera, Ana Felipe Rucián
Funding agency: Instituto de Salud Carlos III
Funding: 196020
Reference: PI20/01803
Duration: 01/01/2021 - 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, 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

EVALUACIÓN DE LOS MECANISMOS MOLECULARES Y LA RESONANCIA MAGNÉTICA FETAL EN MALFORMACIONES CEREBRALES DE FOSA POSTERIOR

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency:
Funding:
Reference: PR(AMI)34/2018
Duration: -

Estudio de secuelas en ADEM pediátrico mediante tomografía de coherencia óptica

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency:
Funding:
Reference: PR(AMI)398/2017
Duration: -

Related news

Les malalties minoritàries són greus, poc freqüents i afecten 5 de cada 10.000 persones. N'hi ha més de 7.000, un 80% de les quals són d'origen genètic. Generalment impliquen diversos òrgans i afecten les capacitats físiques, les habilitats mentals i les qualitats sensorials i de comportament de les persones afectades.

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