Alfons Macaya Ruíz Institutions of which they are part Head of group Pediatric Neurology Vall Hebron Institut de Recerca Email Alfons Macaya Ruíz Email 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 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 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 Pagination Current page 1 Page 2 Page 3 Page 4 Page 5 … Next page › Last page »
