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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

Belen Perez Dueñas

Belen Perez Dueñas

Head of group
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Mireia Del Toro Riera

Mireia Del Toro Riera

Predoctoral researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Ana Felipe Rucián

Ana Felipe Rucián

Predoctoral researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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David Gómez Andrés

David Gómez Andrés

Head of group
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Anna Marcé Grau

Anna Marcé Grau

Main researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Dennisse Moggia Morla

Dennisse Moggia Morla

Research technician
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Belen Perez Dueñas

Belen Perez Dueñas

Head of group
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more
Mireia Del Toro Riera

Mireia Del Toro Riera

Predoctoral researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more
Ana Felipe Rucián

Ana Felipe Rucián

Predoctoral researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more
David Gómez Andrés

David Gómez Andrés

Head of group
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more
Anna Marcé Grau

Anna Marcé Grau

Main researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more
Dennisse Moggia Morla

Dennisse Moggia Morla

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

Research lines

Digital Biomarker Study in Neuropediatric Diseases

Digital tools provide a unique opportunity to continuously and objectively monitor pediatric patients with neurological disorders. This project aims to identify and validate digital biomarkers using wearable sensors, video analysis, movement pattern analysis, and artificial intelligence applied to clinical data. The ultimate goal is to improve diagnosis, monitoring, and personalized treatment for children with complex neurological diseases.

IP: David Gómez Andrés, Belen Perez Dueñas

Gene Therapy for the Treatment of Congenital Muscular Dystrophy Due to Merosin Deficiency

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

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

Deep Brain Stimulation for the Treatment of Dystonia

Deep brain stimulation (DBS) is a highly effective symptomatic treatment for various forms of childhood-onset dystonia. However, there is significant variability in its short- and long-term clinical efficacy. Factors contributing to this dystonia-related variability may be radiological, genetic, or surgical and can be effectively analyzed in the preoperative process. Analyzing these factors will allow for personalized DBS adaptation and optimization of its clinical benefits.

IP: Belen Perez Dueñas

Projects

Evaluación del impacto social del programa PAIR: uniendo adolescentes y personas con Parkinson.

IP: Ariadna Laguna Tuset
Collaborators: Silvia Enriquez Calzada, Maria Victoria Gonzalez Martinez, Jorge Hernández Vara, Alba Jané Dern, Sara Mas Assens, Laura Georgina Teixido Bergada, Sara Belmonte Calderon
Funding agency: Fundació "La Caixa"
Funding: 49802.5
Reference: CX24-00187
Duration: 15/09/2025 - 14/09/2027

KIDS Vall d'Hebron: Jóvenes Impulsando la Ciencia Ciudadana y la Comunicación Científica

IP: Lucas Moreno Martín-Retortillo
Collaborators: Marina Martínez Jiménez, Alfons Macaya Ruíz, Anna Santamaria Margalef, Pere Soler Palacín, Ana Marti Delgado, Sara Mas Assens, Immaculada Hernández Rodríguez
Funding agency: Fundación Española Ciencia y Tecnología (FECYT)
Funding: 25000
Reference: FCT-24-21771
Duration: 01/09/2025 - 31/08/2026

RED ESPAÑOLA DE NEUROPATÍAS AUTOINMUNES - Spanish Partnership for Autoimmune Neuropathies (SPAiN)

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

Trio Study in Fetuses with Central Nervous System Malformations (CNS-TRIO Project)

IP: Nerea Maiz Elizaran
Collaborators: Josefa Élida Vázquez Méndez, Marta Codina Solà, Ma Irene Valenzuela Palafoll, Silvia Arévalo Martínez, Carlota Rodó Rodríguez, Trio Study in Fetuses with Central Nervous System Malformations (CNS-TRIO Project), David Gómez Andrés, Amaia Lasa Aranzasti, Elena Moreno Perez
Funding agency: Fundació La Marató de TV3
Funding: 197000
Reference: 202420-10
Duration: 20/02/2025 - 19/02/2028

Thesis

Malalties minoritàries causants de trastorns del moviment i degeneració de ganglis basals en la infancia

PhD student: Heidy Suriel Baide Mairena
Director/s: Belen Perez Dueñas
University: Universitat Autònoma de Barcelona
Year: 2023

Malalties genètiques causants de trastorns del moviment a l'edat pediàtrica

PhD student: Marta Correa Vela
Director/s: Belen Perez Dueñas
University: Universitat Autònoma de Barcelona
Year: 2023

Seqüenciació exòmica en l'estudi molecular de les encefalopaties epilèptiques d'inici precoç

PhD student: Marcé Grau, Anna
Director/s: Macaya Ruíz, Alfons
University: Universitat Autònoma de Barcelona
Year: 2018

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.