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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

Julia Sala Coromina

Julia Sala Coromina

Research technician
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Sara Ribas Natera

Sara Ribas Natera

Research technician
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Xavier Francisco Matovelle Carrillo

Xavier Francisco Matovelle Carrillo

Predoctoral researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Alfons Macaya Ruíz

Alfons Macaya Ruíz

Main researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Francina Munell Casadesus

Francina Munell Casadesus

Main researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Laura Costa Comellas

Laura Costa Comellas

Predoctoral researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Julia Sala Coromina

Julia Sala Coromina

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

Sara Ribas Natera

Research technician
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more
Xavier Francisco Matovelle Carrillo

Xavier Francisco Matovelle Carrillo

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

Alfons Macaya Ruíz

Main researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more
Francina Munell Casadesus

Francina Munell Casadesus

Main researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more
Laura Costa Comellas

Laura Costa Comellas

Predoctoral 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

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 Villa María, Lucy Dougherty de Miguel
Funding agency: Instituto de Salud Carlos III
Funding: 140000
Reference: PI24/01083
Duration: 01/01/2025 - 31/12/2027

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

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

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.