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.
Many rare diseases of genetic origin affect neurodevelopment, causing severe motor problems that are difficult to treat. Our team uses a multidisciplinary approach to develop personalized treatments based on precision medicine with these objectives:
Our team promotes clinical and translational research in hospital care programs, such as units specialized in Dystonia and other Movement Disorders, Ataxias and Paraparesis, the Fetal Medicine Unit for Prenatal Diagnosis of Neurological Diseases and the Gene Therapy group for Neuromuscular pathology. Our researchers lead projects in the ERN-RND.
Development of a new gene therapy strategy based on high-capacity adenoviral vectors, in collaboration with the Gene and Cell Therapy group at VHIR, led by Dr. Jordi Barquinero and Dr. María Pallarès-Masmitjà.
IP: David Gómez Andrés
The application of advanced magnetic resonance imaging (MRI) techniques enables an objective and quantitative characterization of the progression of various neurological diseases. This research focuses on developing imaging biomarkers to identify radiological patterns. For neuromuscular diseases, the aim is to identify specific patterns of fat replacement and muscle inflammation, as well as to correlate these changes with motor function and other clinical parameters. For patients with movement disorders, specific imaging patterns will be studied to establish efficacy biomarkers for deep brain stimulation. This will contribute to better patient stratification and evaluation of responses to different experimental treatments.
IP: David Gómez Andrés, Belen Perez Dueñas
In collaboration with the Molecular Physiology of Synapses group at the Sant Pau Research Institute, led by Dr. Àlex Bayés, a mouse model of myoclonic dystonia caused by defects in the SGCE gene has been created. Using this animal model and human samples, we study the brain expression pattern of SGCE and its role in synapses and the proper establishment of neuronal connections. The goal is to understand the pathophysiological mechanism underlying dystonia and its potential relationship with other genes that trigger this movement disorder.
IP: Belen Perez Dueñas, Anna Marcé Grau
Application of new genetic diagnostic tools such as Whole Genome Sequencing, RNAseq, or Optical Genome Mapping to optimize the diagnosis of patients with various motor disorders, including neuromuscular diseases, dystonias, and other movement disorders.
IP: David Gómez Andrés, Anna Marcé Grau, Belen Perez Dueñas
Over the course of one week, it will host in-person assessments for 35 families to better understand the progression of the disease and contribute to the development of new therapies.
The event focused on advances in disease-modifying therapies and on the value of alliances between patients and professionals to promote more participatory care and research.
The donation will enable further characterisation of patients with this rare disease, the identification of new biomarkers and the exploration of innovative therapies.
