Alfons Macaya Ruíz Institutions of which they are part Main researcher Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases Vall Hebron Institut de Recerca Email Alfons Macaya Ruíz Email Institutions of which they are part Main researcher Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases 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 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, Neurologia infantil, 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 »
