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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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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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Milagros Carusillo Surballe

Milagros Carusillo Surballe

Predoctoral 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
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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
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
Milagros Carusillo Surballe

Milagros Carusillo Surballe

Predoctoral researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more
Ana Laura Cazurro Gutierrez

Ana Laura Cazurro Gutierrez

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

Projects

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, Eulàlia Rovira Moreno, 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

PReDICT: Pediatric Stroke Rare Disorders: Integrative Diagnosis and Treatment using Multi-Omics and Deep Learning

IP: Belen Perez Dueñas
Collaborators: Marta Codina Solà, Maria Mar Hernandez Guillamon, Anna Rosell Novel, David Gómez Andrés
Funding agency: Instituto de Salud Carlos III
Funding: 185165.07
Reference: PMPER24/00021
Duration: 01/01/2025 - 31/12/2026

Predictores de eficacia clínica, genética y radiológica en niños y adolescentes con distonía tratados mediante estimulación cerebral profunda

IP: Belen Perez Dueñas
Collaborators: Anna Marcé Grau, Manel Alberich Jordà, Ana Laura Cazurro Gutierrez, Lucy Dougherty de Miguel
Funding agency: Instituto de Salud Carlos III
Funding: 140000
Reference: PI24/01083
Duration: 01/01/2025 - 31/12/2027

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, Ibane Abasolo Olaortua, Ignacio Ferreira González, José Antonio Barrabés Riu, Carlos Nos Llopis, Pablo Velasco Puyó, Jose Fernando Rodríguez Palomares, María Rosario Pérez- Torres Lobato, 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, Julia German Cortes, Maria Jose Pérez García, Miguel Segura Ginard, Diego Baranda Martínez-Abasca, 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 García del Blanco, 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, Angels Alcina Mila, Sandra Mancilla Zamora, Zamira Vanessa Diaz Riascos, Ana Zabalza de Torres, Marc Miquel Moltó Abad, 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, Tian Tian, Fernanda Raquel Da Silva Andrade, 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