Andrés Nascimento Osorio

Investigador

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.

andres.nascimento@sjd.es

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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
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News

  • 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.

  • 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.

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