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
- Koehorst E, Odria R, Capó J, Núñez-Manchón J, Arbex A, Almendrote M, Linares-Pardo I, Natera-de Benito D, Saez V, Nascimento-Osorio A, Ortez-Gonzalez CI, Rubio MÁ, Díaz-Manera J, Alonso-Pérez J, Lucente G, Rodriguez-Palmero A, Ramos-Fransi A, Martínez-Piñeiro A, Nogales-Gadea G and Suelves M An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation. Biomedicines . 10(6): .
- Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases. JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542.
- Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative CLINICAL GENETICS . 101(5-6): 481-493.
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:
- 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 - 2022
- Project name:
- CuidAME: Longitudinal Data Collection from Patients with Spinal Muscular Atrophy in Spain in a nationwide Registry
- Leader
- Andrés Nascimento Osorio
- Funding entities:
- Biogen International GmbH
- Code
- PCP00254
- Starting - finishing date:
- 2019 - 2025
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.