Skip to main content

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

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, Perez Dueñas, Belen, Laura Costa Comellas, Ainara Salazar Villacorta, Francina Munell Casadesus, Miquel Raspall Chaure, Mireia del Toro Riera, Julia Sala Coromina, Ana Felipe Rucián, Cazurro Gutierrez, Ana Laura, Gómez Andrés, David, 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: 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

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.

Related professionals

Hector Mauricio Torres Rios

Hector Mauricio Torres Rios

Reconstructive Surgery of the Locomotor System
Read more
Filipa Xavier De Carvalho Negrao Valente

Filipa Xavier De Carvalho Negrao Valente

Research technician
Cardiovascular Diseases
Read more
Carlos Alberto Piedra Calle

Carlos Alberto Piedra Calle

Reconstructive Surgery of the Locomotor System
Read more
Francisca Yañez Araya

Francisca Yañez Araya

Postdoctoral researcher
Physiology and Pathophysiology of the Digestive Tract
Read more

Subscribe to our newsletters and be part of the Campus life

We are a world-leading healthcare complex where healthcare, research, teaching and innovation go hand in hand.

This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.