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
- Suárez-Calvet X, Fernández-Simón E, Natera-de Benito D, Jou-Munoz C, Pinol-Jurado P, Villalobos E, Ortez-Gonzalez CI, Monceau A, Schiava M, Codina-Bergadà A, Verdu-Díaz J, Clark J, Laidler Z, Mehra P, Gokul-Nath R, Alonso-Perez J, Marini-Bettolo C, Tasca G, Straub V, Guglieri M, Nascimento-Osorio A and Diaz-Manera J Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations CELL DEATH & DISEASE . 14(9): 596-596.
- Exposito-Escudero JM, Natera-de Benito D, Carrera-García L, Armijo JA, Rios A, Nascimento-Osorio A and Ortez-Gonzalez CI [Gene therapy: Where are we? Where are we going?] Medicina . 83 Suppl 4: 13-17.
- Segarra-Casas A, Domínguez-González C, Hernández-Laín A, Sanchez-Calvin MT, Camacho A, Rivas E, Campo-Barasoain A, Madruga M, Ortez-Gonzalez CI, Natera-de Benito D, Nascimento-Osorio A, Codina-Bergadà A, Rodriguez MJ, Gallano P and Gonzalez-Quereda L Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events. JOURNAL OF MEDICAL GENETICS . 60(6): 615-619.
Projects
- 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
- Project name:
- Early diagnosis of dystrophinopathy in patients under 5 years of age who present hypertransaminemia in laboratory analysis in a pediatric referral hospital
- Leader
- Andrés Nascimento Osorio
- Funding entities:
- PTC Therapeutics, Inc., PTC Therapeutics International Limited
- Code
- PCP00273
- Starting - finishing date:
- 2020 - 2024
News
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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.