Anna Marcé Grau Institutions of which they are part Main researcher Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases Vall Hebron Institut de Recerca Email Anna Marcé Grau Email Institutions of which they are part Main researcher Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases Vall Hebron Institut de Recerca
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 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 Projects 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 Neurologia infantil IP: Alfons Macaya Ruíz Collaborators: Laia Ventura i Expósito, Belen Perez Dueñas, Laura Costa Comellas, Neurologia infantil, Francina Munell Casadesus, Anna Marcé Grau, Miquel Raspall Chaure, Mireia del Toro Riera, Julia Sala Coromina, Ana Felipe Rucián, Ana Laura Cazurro Gutierrez, David Gómez Andrés, Amaia Lasa Aranzasti, Lucy Dougherty de Miguel Funding agency: Agència Gestió Ajuts Universitaris i de Recerca Funding: 0.01 Reference: 2021 SGR 01171 Duration: 01/01/2022 - 30/06/2025 Trastornos del movimiento en la edad pediátrica IP: Belen Perez Dueñas Collaborators: Maria Victoria Gonzalez Martinez, Trastornos del movimiento en la edad pediátrica, Anna Marcé Grau, Ana Laura Cazurro Gutierrez, Amaia Lasa Aranzasti Funding agency: Instituto de Salud Carlos III Funding: 125840 Reference: PI21/00248 Duration: 01/01/2022 - 30/06/2026 Evaluation of NGS candidate genes causality in developmental epileptic encephalopathiea IP: Alfons Macaya Ruíz Collaborators: Anna Marcé Grau, Miquel Raspall Chaure, Mireia del Toro Riera, Julia Sala Coromina, Ana Felipe Rucián Funding agency: Instituto de Salud Carlos III Funding: 196020 Reference: PI20/01803 Duration: 01/01/2021 - 31/12/2023 Pagination Current page 1 Page 2 Next page › Last page »
