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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

Maria Victoria Gonzalez Martinez

Maria Victoria Gonzalez Martinez

Senior researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Miquel Raspall Chaure

Miquel Raspall Chaure

Predoctoral researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Rocío Piñera Moreno

Rocío Piñera Moreno

Research technician
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
Read more
Miquel Raspall Chaure

Miquel Raspall Chaure

Predoctoral researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more
Rocío Piñera Moreno

Rocío Piñera Moreno

Research technician
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more

Projects

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, 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 i Tura, Antonia Pijuan Domenech, Roser Ferrer Costa, Carmen Tur Gomez, Maria Cristina Díaz de Heredia Rubio, Laia Yañez Bisbe, Maria Jose Pérez García, Miguel Segura Ginard, Cristina Auger Acosta, Neus Bellera Gotarda, 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 Garcia del Blanco, Ana Vivancos Prellezo, Maria Teresa Salcedo Allende, Marisol Ruiz Meana, Ana Belén Méndez Fernández, Anna Llort Sales, Carmen Espejo Ruiz, Raquel Hladun Alvaro, Sandra Mancilla Zamora, Ana Zabalza de Torres, Marc Miquel Moltó Abad, Javier Inserte Igual, Luciana Midaglia Fernandez, Gabriela Guillén Burrieza, David Gómez Andrés, Alvaro Cobo Calvo, Alvaro Calabuig Goena, Joaquin Castillo Justribo, Lucas Moreno Martín-Retortillo, Andres Miguez Gonzalez, Josep Roma Castanyer, Laura Dos Subirá, Jaume Capdevila Castillon, Nicolás Miguel Fissolo , Maria Nazarena Pizzi, Paolo Giovanni Nuciforo, Tian Tian, Andrea Guala , Juan Pablo Betancur Rengifo
Funding agency: Instituto de Salud Carlos III
Funding: 2494527.53
Reference: FORT23/00034
Duration: 01/01/2024 - 31/12/2027

Distrofia muscular congénita tipo 1A: inhibición de la fibrosis y corrección mediante edición génica

IP: -
Collaborators: Laura Costa Comellas, Francina Munell Casadesus, Maria Pallares Masmitja, David Gómez Andrés, Rocío Piñera Moreno
Funding agency: Instituto de Salud Carlos III
Funding: 117370
Reference: PI22/01027
Duration: 01/01/2023 - 30/06/2027

Trastornos del movimiento en la edad pediátrica

IP: Belen Perez Dueñas
Collaborators: Maria Victoria Gonzalez Martinez, Anna Marcé Grau, 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, Sara Belmonte Calderon
Funding agency: Instituto de Salud Carlos III
Funding: 171820
Reference: PI21/01603
Duration: 01/01/2022 - 30/06/2026

Blog

News

The project’s 4th annual meeting was recently held as part of the Fortalece–Salud programme of the Carlos III Health Institute.

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.