Jordi Pijuan Marquilles
Investigador post-doc
Research group
Research line:
The landscape between the phenotype and the genotype of developmental neurological diseases: Validation of a clinical functional biology model
Researcher Jordi Pijuan Marquilles graduated in Biology in 2009 from the Universitat de Girona. Subsequently, he completed his training with a Master's degree in Advanced Microbiology from the Universitat de Barcelona (2010) and a Master's degree in Biotechnology in Health Sciences from the Universitat de Lleida (2011). In 2015, he obtained a PhD in Molecular Biology from the Universitat de Lleida.
Since 2018, he has been affiliated with the Institut de Recerca Sant Joan de Déu as a postdoctoral researcher, where he has participated in several national and international research projects. His scientific activity has focused mainly on molecular biology and genetics applied to rare diseases.
Since 2023, he has also served as Managing Editor of the journal Orphanet Journal of Rare Diseases.
Currently, his research focuses on the study of the genetics and pathophysiology of neuromuscular diseases, with the aim of contributing to a better understanding of the molecular mechanisms involved and to the development of new diagnostic and therapeutic strategies.
In 2026, he joined the Applied Research in Neuromuscular Diseases group, where he contributes to the development of the CribAME project, which aims to improve personalized medicine for SMA patients identified through newborn screening in Spain. In parallel, he participates in the group's research lines focused on the study of the genetics and pathophysiology of other neuromuscular diseases, with the goal of improving the understanding of the underlying molecular mechanisms, as well as identifying new diagnostic and/or therapeutic strategies.
Last Publications
- Pascual-Rodriguez A, Moulka, T, de Fàbregues, O, Repossi, R, García-Ruiz, PJ, Ortolano, S, De Lucca, M, Vela-Desojo, L, Alves-Villar, M, Frías, M, Feliz-Feliz, C, Roldan-Molina M, Olival, J, Fernandez-Isern G, Palau F, Pijuan-Marquilles J and Hoenicka J Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 26(19): .
- Palau F, Cantarero-Abad L, Roldan-Molina M, Rodríguez-Sanz M, Mathison A, Díaz-Osorio Y, Pijuan-Marquilles J, Frías M, Urrutia R and Hoenicka J Abnormal Redox Balance at Membrane Contact Sites Causes Axonopathy in Gdap1-related Charcot-marie-tooth Disease. research square . : .
- Pijuan-Marquilles J, Vilanova-Adell A, Casas-Alba D, Campistol-Plana J, Hoenicka J and Palau F Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants CLINICAL GENETICS . 105(3): 340-342.
Projects
- Project name:
- Avanzando hacia las mejores prácticas y la medicina personalizada en pacientes con AME detectados por cribado neonatal en España: Proyecto CribAME
- Leader
- Eduardo Fidel Tizzano Ferrari, Andrés Nascimento Osorio
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI25/00305
- Starting - finishing date:
- 2026 - 2028
- Project name:
- BETTER_Better rEal-world healTh-daTa distributEd analytics Research platform
- Leader
- Francesc Palau Martínez
- Funding entities:
- European Commission, Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD, Palau Martínez, Francesc
- Code
- 101136262
- Starting - finishing date:
- 2023 - 2027
- Project name:
- Genes y Fenotipos de Síndromes Parkinsonianos: validación funcional de hallazgos genéticos - ParkGenPhen
- Leader
- Janet Hoenicka
- Funding entities:
- Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD, Hoenicka, Janet
- Code
- PI22/00680
- Starting - finishing date:
- 2023 - 2026
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.
