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Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases

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:

  • Early and precision diagnosis by applying technological advances in genetics and imaging of the nervous system.
  • Clinical and preclinical development of advanced therapies and facilitation of access to those already available.
  • Deep brain stimulation program for symptomatic treatment of refractory movement disorders.
  • Technological innovation and digital transformation of rare diseases.

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.

Team

Ana Laura Cazurro Gutierrez

Ana Laura Cazurro Gutierrez

Predoctoral researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Maria Victoria Gonzalez Martinez

Maria Victoria Gonzalez Martinez

Senior researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Ana Laura Cazurro Gutierrez

Ana Laura Cazurro Gutierrez

Predoctoral researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more
Maria Victoria Gonzalez Martinez

Maria Victoria Gonzalez Martinez

Senior researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more

Research lines

Molecular Basis of Dystonia: The SGCE Paradigm

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

Precision Genetic Diagnosis

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

Projects

Innovative Biomarkers Unveiling Neglected Manifestations and Progression in Female Carriers of DMD Mutations - [INNO-CARRIER]

IP: David Gómez Andrés
Collaborators: -
Funding agency: Duchenne Parent Project España
Funding: 35100
Reference: DUCHENNE/AYUDAS/GOMEZ/2024
Duration: 27/02/2025 - 27/02/2027

TACTIC: Explorando soluciones a los retos de salud mediante ciencia disruptiva, terapias avanzadas y medicina de sistemas

IP: Begoña Benito Villabriga
Collaborators: Carmen Escudero Iriarte, Laia Ventura i Expósito, Susana Otero Romero, Ignacio Ferreira González, José Antonio Barrabés Riu, Carlos Nos Llopis, Pablo Velasco Puyó, Jose Fernando Rodríguez Palomares, Sunny Malhotra Sareen, Belen Perez Dueñas, Jaume Sastre Garriga, Joan López Hellin, Antonia Sambola Ayala, Jordi Rio Izquierdo, Nuria Rivas Gandara, Jordi Perez Rodon, Aroa Soriano Fernández, Manuel Comabella Lopez, Antonio Rodríguez Sinovas, Gisela Teixido Tura, Antonia Pijuan Domenech, Roser Ferrer Costa, Joaquin Seras Franzoso, Carmen Tur Gomez, Maria Cristina Díaz de Heredia Rubio, Laia Yañez Bisbe, Maria Jose Pérez García, Miguel Segura Ginard, Diego Baranda Martínez-Abasca, Cristina Auger Acosta, Neus Bellera Gotarda, Teresa Macarulla Mercadé, Herena Eixarch Ahufinger, M Mar Mañu Pereira, Deborah Pareto Onghena, Lorena Valero Arrese, Aitor Uribarri Gonzalez, Jordi Bañeras Rius, Alex Rovira Cañellas, Mar Tintore Subirana, Bruno García del Blanco, Ana Vivancos Prellezo, Maria Teresa Salcedo Allende, Marisol Ruiz Meana, Ana Belén Méndez Fernández, Xavier Montalban Gairín, Simon Schwartz Navarro, Anna Llort Sales, Carmen Espejo Ruiz, Raquel Hladun Alvaro, Sandra Mancilla Zamora, Ana Zabalza de Torres, Javier Inserte Igual, Luciana Midaglia Fernandez, Elizabeth Pando Rau, Gabriela Guillén Burrieza, Ana Laura Cazurro Gutierrez, David Gómez Andrés, Alvaro Cobo Calvo, Alvaro Calabuig Goena, Joaquin Castillo Justribo, Lydia Dux-Santoy Hurtado, Lucas Moreno Martín-Retortillo, Andres Miguez Gonzalez, Josep Roma Castanyer, Laura Dos Subirá, Nicolás Miguel Fissolo, Maria Nazarena Pizzi, Paolo Giovanni Nuciforo, Tian Tian, Diana Fernandes de Rafael, Andrea Guala
Funding agency: Instituto de Salud Carlos III
Funding: 2494527.53
Reference: FORT23/00034
Duration: 01/01/2024 - 31/12/2027

Trastornos del movimiento en la edad pediátrica

IP: Belen Perez Dueñas
Collaborators: Maria Victoria Gonzalez Martinez, Anna Marcé Grau, Ana Laura Cazurro Gutierrez, Amaia Lasa Aranzasti
Funding agency: Instituto de Salud Carlos III
Funding: 125840
Reference: PI21/00248
Duration: 01/01/2022 - 30/06/2026

The brain-body axis in Parkinson’s disease patients: from pathophysiology to biomarkers and therapeutic approaches

IP: Ariadna Laguna Tuset
Collaborators: Maria Victoria Gonzalez Martinez, Miquel Vila Bover, Daniela Samaniego Toro, The brain-body axis in Parkinson’s disease patients: from pathophysiology to biomarkers and therapeutic approaches , Sara Belmonte Calderon
Funding agency: Instituto de Salud Carlos III
Funding: 171820
Reference: PI21/01603
Duration: 01/01/2022 - 30/06/2026

Blog

News

Funding has been obtained for 43 projects under the calls for Health R&D&I Projects, Health Technology Development, and Independent Clinical Research

The project aims to improve prevention, diagnosis, and treatment through computational biomedicine, innovative therapies, and the transfer of knowledge into clinical practice.