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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.

Research lines

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

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

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

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

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.