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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

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

Application of MRI imaging to the study of Parkinson's disease

The aim of the line is to evaluate the added value of the information provided by MRI techniques, mainly aimed at the evaluation of melanin, myelin, presence of Fe, structural and functional connectivity in the study of Parkinson’s disease.

IP: Fco. Javier Aymerich Martínez, Alex Rovira Cañellas

Application of MRI imaging to the study of Parkinson's disease

The aim of the line is to evaluate the added value of the information provided by MRI techniques, mainly aimed at the evaluation of melanin, myelin, presence of Fe, structural and functional connectivity in the study of Parkinson’s disease.

IP: Fco. Javier Aymerich Martínez, Alex Rovira Cañellas

Application of MRI imaging to the study of Parkinson's disease

The aim of the line is to evaluate the added value of the information provided by MRI techniques, mainly aimed at the evaluation of melanin, myelin, presence of Fe, structural and functional connectivity in the study of Parkinson’s disease.

IP: Fco. Javier Aymerich Martínez, Alex Rovira Cañellas

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.