About the VHIR
Here at the Vall d'Hebron Research Institute (VHIR) we promote biomedical research, innovation and teaching. Over 1,800 people are seeking to understand diseases today so the treatment can be improved tomorrow.
Research
We are working to understand diseases, to find out how they operate and to create better treatments for patients. Get to know about our groups and their lines of research.
People
People are the centre of the Vall d'Hebron Research Institute (VHIR). This is why we are bound by the principles of freedom of research, gender equality and professional attitudes that HRS4R promotes.
Clinical trials
Our work is not just basic or translational; we are leaders in clinical research. Enter and find about the clinical trials we are conducting and why we are a world reference in this field.
Progress
Our aim is to make the research carried out at the Vall d’Hebron Research Institute (VHIR) a driving force for transformation. How? By identifying new channels and solutions for the promotion of people's health and well-being.
Core facilities
We offer specialist support for researchers, internal and external alike, ranging from specific services to preparing complete projects. All this, from a perspective of quality and speed of response.
News
We offer you a gateway for staying up to date on everything going on at the Vall d’Hebron Research Institute (VHIR), from the latest news to future solidarity activities and initiatives that we are organising.
The Pediatric Neurology Research group is mainly involved in the study of genetic diseases of the developing nervous system. The main emphasis is on paroxysmal neurological disorders and neuromuscular disorders. A common theme across the different projects, besides the identification of the molecular basis of several of these rare disorders, is the investigation of molecules involved in their pathophysiological mechanisms and the effective translation of these findings into the fields of molecular diagnosis, genetic counselling and newly developed gene or drug therapies.
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
1. DUCHENNE MUSCULAR DYSTROPHY (DMD)
THERAPEUTIC POTENTIAL OF ESTROGENS IN DMD, EFFECTS AND MECHANISMS OF ACTION ON SATELLITE CELLS AND MACROPHAGES
We have found that estradiol has beneficial effects on myogenesis and inflammation. We aim to characterize the estradiol effects on satellite cells and their interaction with macrophages and the ability of estrogens to increase the efficiency of cell therapy based on satellite cell transplant to restore the expression of dystrophin in the dystrophic muscle in vivo.
IN VITRO TESTING OF GENE THERAPIES TO REPAIR DYSTROPHIN IN HUMAN MYOBLASTS AND DEVELOPMENT OF NANIOPARTICLES FOR MUSCLE DELIVERY
Compounds with readthrough activity are currently used for DMD patients with nonsense mutations with highly variable results. We are testing the efficacy of several drugs with read-through action (PTC124, RTC14, RTC13, Geneticin) to restore protein levels in myoblasts and differentiated myotubes obtained from DMD patients carrying nonsense mutations with variable codon composition and different location.
We are testing the possibility to use modified nanopaticles for muscle delivery of specific drugs.
2. USE OF NEW TECHNOLOGIES FOR DIAGNOSTIC OPTIMISATION IN INHERITED MYOPATHIES
We used exome capture and massive sequencing technologies for the diagnosis of patients with neuromuscular disorders, to deliver a proof-of-concept of the superior diagnostic accuracy, speed and costeffectiveness of these novel technologies over current approaches.
IP: Francina Munell Casadesus
IP: Arnau Llauradó Gayete Collaborators: Josep Quer Sivila, Laura Costa Comellas Funding agency: Instituto de Salud Carlos III Funding: 480370 Reference: PMPER24/00018 Duration: 01/01/2025 - 31/12/2026
IP: Belen Perez Dueñas Collaborators: Anna Marcé Grau, Manel Alberich Jordà, Ana Laura Cazurro Gutierrez, Lucy Dougherty de Miguel Funding agency: Instituto de Salud Carlos III Funding: 140000 Reference: PI24/01083 Duration: 01/01/2025 - 31/12/2027
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
IP: Alfons Macaya Ruíz Collaborators: Laia Ventura i Expósito, Belen Perez Dueñas, Laura Costa Comellas, Neurologia infantil, 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
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PMID: 39312004 Journal: JOURNAL OF CLINICAL IMMUNOLOGY Year: 2024 Reference: J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8. Impact factor: Publication type: Paper in international publication Authors: Adam, Margaret P; Adams, David; Amel, Hassan; Baple, Emma L; Barberis, Matteo; Barredo, Estibaliz; Bhatia, Sanil; Biondi, Andrea; Borkhardt, Arndt; Brusco, Alfredo et al. DOI: 10.1007/s10875-024-01793-8
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PMID: 33519696 Journal: Frontiers in Neurology Year: 2020 Reference: Front Neurol. 2021 Jan 14;11:616569. doi: 10.3389/fneur.2020.616569. eCollection 2020. Impact factor: Publication type: Review in international publication Authors: Bachoud-Levi, Anne-Catherine; Baumer, Tobias; Bertini, Enrico; Brunelle, Alicia; Buizer, Annemieke I; Federico, Antonio; Gasser, Thomas; Graessner, Holm; Groeschel, Samuel; Hermanns, Sanja et al. DOI: 10.3389/fneur.2020.616569
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PMID: 31872049 Journal: Neurology-Genetics Year: 2019 Reference: Neurol Genet. 2019 Oct 24;5(6):e364. doi: 10.1212/NXG.0000000000000364. eCollection 2019 Dec. Impact factor: Publication type: Paper in international publication Authors: Awasthi, Swapnil; Davidsson, Olafur B; Erikstrup, Christian; Esserlind, Ann-Louise; Folkmann Hansen, Thomas; Francke Christensen, Anne; Hjalgrim, Henrik; Ingason, Andres; Kogelman, Lisette J A; Macaya Ruíz, Alfons et al. DOI: 10.1212/NXG.0000000000000364
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PMID: 29053075 Journal: JOURNAL OF NEUROSURGERY Year: 2018 Reference: J Neurosurg. 2018 Sep;129(3):779-791. doi: 10.3171/2017.3.JNS162479. Epub 2017 Oct 20. Impact factor: Publication type: Paper in international publication Authors: Espanol, Malena I; Macaya, Alfons; Martin, Bryn A; Moncho, Dulce; Poca, Maria A; Rovira, Alex; Sahuquillo, Juan; Urbizu, Aintzane et al. DOI: 10.3171/2017.3.JNS162479
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PMID: 27030250 Journal: Orphanet Journal of Rare Diseases Year: 2016 Reference: Orphanet J Rare Dis. 2016 Mar 31;11:32. doi: 10.1186/s13023-016-0406-2. Impact factor: Publication type: Clinical guide Authors: Baruteau, Julien; Cano, Aline; Chakrapani, Anupam; Coker, Mahmut; Couce, Maria L; Del Toro, Mireia; Delgado, Maria Bueno; Donati, Maria Alice; Garcia-Cazorla, Angeles; Gil-Ortega, David et al. DOI: 10.1186/s13023-016-0406-2
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PhD student: Agusti Rodriguez Palmero Seuma Director/s: Alfons Macaya Ruíz, Aurora Pujol Onofre University: Universitat Autònoma de Barcelona Year: 2022
PhD student: Anna Marcé Grau Director/s: Alfons Macaya Ruíz University: Universidad Autònoma de Barcelona Year: 2018
PhD student: María Teresa Lax Pericall Director/s: University: Universidad Autònoma de Barcelona Year: 2016
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.
