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
Last Publications
- Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication. CLINICAL CHEMISTRY . 70(12): 1443-1451.
- Servais L, Strijbos P, Poleur M, Mirea A, Butoianu N, Sansone VA, Vuillerot C, Schara-Schmidt U, Scoto M, Seferian AM, Previtali SC, Tulinius M, Nascimento-Osorio A, Furlong P, Singh T, Dreghici RD, Goemans N, Mercuri E, Straub V, Ormazabal MG, Braid J, Muntoni F, Tricot A, Annoussamy M and Eggenspieler D Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint. SCIENTIFIC REPORTS . 14(1): 29681-29681.
- Mendell JR, Muntoni F, McDonald CM, Mercuri EM, Ciafaloni E, Komaki H, Leon-Astudillo C, Nascimento-Osorio A, Proud C, Schara-Schmidt U, Veerapandiyan A, Zaidman CM, Guridi M, Murphy AP, Reid C, Wandel C, Asher DR, Darton E, Mason S, Potter RA, Singh T, Zhang W, Fontoura P, Elkins JS and Rodino-Klapac LR AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial NATURE MEDICINE . : .
Projects
- Project name:
- Desarrollo de outcome measures clínicos e identificación de biomarcadores para avanzar hacia el tratamiento personalizado en síndromes miasténicos congénitos (MYASMEASURES)
- Leader
- Daniel Natera de Benito
- Funding entities:
- Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD, Natera de Benito, Daniel
- Code
- PI24/00473
- Starting - finishing date:
- 2025 - 2027
- Project name:
- Proyecto AME - DEGLUCION
- Leader
- Andrés Nascimento Osorio
- Funding entities:
- Roche Farma, S.A
- Code
- PCP00431
- Starting - finishing date:
- 2024 - 2025
- Project name:
- PCP00428 Costes de la miopatía miotubular ligada al cromosoma X (XLMTM). Estudio retrospectivo, unicéntrico
- Leader
- Andrés Nascimento Osorio
- Funding entities:
- Cencora. PHARMALEX SPAIN, SLU
- Code
- PCP00428
- Starting - finishing date:
- 2024 - 2025
News
-
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.
-
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.