Skip to main content

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.

Research lines

Imaging Biomarker Study in Neuropediatric Diseases

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: Belen Perez Dueñas, David Gómez Andrés

Imaging Biomarker Study in Neuropediatric Diseases

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: Belen Perez Dueñas, David Gómez Andrés

Advanced quantitative techniques of MR Imaging in the assessment of neurological and neurooncological diseases

The objective of the line is to evaluate the added value of the information provided by quantitative MR techniques, mainly T1 and T2 relaxometry, as well as chemical exchange saturation transfer imaging (CEST) to the study of neurological and neuro-oncological diseases.

IP: Fco. Javier Aymerich Martínez, Alex Rovira Cañellas, Cristina Auger Acosta

Advanced quantitative techniques of MR Imaging in the assessment of neurological and neurooncological diseases

The objective of the line is to evaluate the added value of the information provided by quantitative MR techniques, mainly T1 and T2 relaxometry, as well as chemical exchange saturation transfer imaging (CEST) to the study of neurological and neuro-oncological diseases.

IP: Fco. Javier Aymerich Martínez, Alex Rovira Cañellas, Cristina Auger Acosta

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

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.