Andrés Nascimento Osorio
Investigador
Research group
The researcher Andrés Nascimiento has a degree in Medicine and Pediatrics from the Central University of Venezuela. In 2004, he obtained a master's degree in Neuropediatrics from the Hospital Sant Joan de Déu.
In 2012, he made a stay at the Great Ormmon Street Hospital in London and later at the University of New Castle.
He is currently the coordinator of the Neuromuscular Pathology Unit of the Hospital Sant Joan de Déu in Barcelona.
He is a clinical coordinator and collaborator in several translational research projects within the biomedical research network of rare diseases, with main interest in the group of congenital muscular dystrophies, spinal muscular atrophy and Duchenne muscular dystrophy (CIBERER) focused on the study of natural history, functional assessment and biomarkers. He is a collaborator and scientific advisor in different associations of patients with neuromuscular diseases.
Professional network profiles
Related websites
SJD Barcelona Children's Hospital Last Publications
- Llansó L, Segarra-Casas A, Domínguez-González C, Malfatti E, Kapetanovic S, Rodríguez-Santiago B, de la Calle O, Blanco R, Dobrescu A, Nascimento-Osorio A, Paipa A, Hernandez-Lain A, Jou-Munoz C, Mariscal A, González-Mera L, Arteche A, Lleixà C, Caballero-Ávila M, Carbayo Á, Vesperinas A, Querol L, Gallardo E and Olivé M Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naive Early-Onset Anti-HMGCR Necrotizing Myopathy NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION . 11(5): .
- Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez-Gonzalez CI, Martorell-Sampol L, Estévez-Arias B, Matalonga L, Laurie S, Jou-Munoz C, Lau J, Thompson R, Shen X, Engel AG, Nascimento-Osorio A, Lochmüller H and Selcen D Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases. PEDIATRIC NEUROLOGY . 157: 5-13.
- Crawford TO, Day JW, De Vivo DC, Krueger JM, Mercuri E, Nascimento-Osorio A, Pasternak A, Mazzone ES, Duong T, Song G, Marantz JL, Baver S, Yu D, Liu L and Darras BT Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study FRONTIERS IN NEUROLOGY . 15: 1419791-1419791.
Projects
- Project name:
- Estudio de la historia natural de la artrogriposis múltiple congénita
- Leader
- Andrés Nascimento Osorio
- Funding entities:
- Associació Muevete por los que no pueden
- Code
- PCP00375
- Starting - finishing date:
- 2023 - 2024
- Project name:
- Spinal muscular atrophy disease registry
- Leader
- Andrés Nascimento Osorio
- Funding entities:
- Novartis Farmacéutica, S.A
- Code
- PCP00323
- Starting - finishing date:
- 2021 - 2026
- Project name:
- ArmTracker: A state-of-the-art wearable system to assess upper limb motor function in reallife conditions for patients with Duchenne muscular dystrophy and spinal muscular atrophy.
- Leader
- Daniel Natera de Benito
- Funding entities:
- Fundació La Marató de TV3
- Code
- 561/C/2020
- Starting - finishing date:
- 2021 - 2024
News
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The first clinical trial of a gene therapy for Duchenne in children under 4 years old is initiated.
A research team from the Institut de Recerca Sant Joan de Déu · SJD Barcelona Children's Hospital is participating in an international clinical trial of a gene therapy for Duchenne muscular dystrophy in children under 4 years old.
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Mitochondria-lysosome contacts: a new cell phenotype in neurogenetic diseases
The Neurogenetics and Molecular Medicine research group of the Institut de Recerca Sant Joan de Déu (IRSJD), in collaboration with the Neuromuscular Pathology Unit of the SJD Barcelona Children's Hospital (HSJD), has studied the pathophysiology of mitochondrial dynamics and mitochondrial- lysosome contacts in cells from patients with neurogenetic diseases. The article has been published in the journal Frontiers in Neuroscience.
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First scientific conference on nanotechnology and rare diseases
The Spanish nanomedicine platform (Nanomed Spain), together with the Sant Joan de Déu Research Institute and the IBEC (Institute of Bioengineering of Catalonia), organised an event within the framework of the Rare Disease Day at which they presented the latest innovations in the field of nanomedicine for the treatment and diagnosis of these diseases.