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
The researcher Jordi Pijuan graduated in Biology in 2009 at the University of Girona. In 2010 and 2011, he completed master's programs in Advanced Microbiology at the University of Barcelona and in Biotechnology in Health Sciences. Since 2015, he holds a PhD in Molecular Biology from the University of Lleida.
During the 2017-2018 academic year, he served as associate professor in the degree of Physiotherapy and Human Nutrition and Dietetics at the University of Lleida. Currently, he teaches in the master's program in Clinical Genetics and Rare Diseases at the University of Barcelona.
In 2018, he joined the Neurogenetics and Molecular Medicine group at the Sant Joan de Déu Research Institute as a postdoctoral researcher, and since 2022, he has been employed by CIBER. During this period, he has participated in various national and international research projects.
His research activity focuses on the analysis of clinically significant variants of uncertain significance detected through NGS studies, as well as on the development and implementation of tools for diagnosing patients with undiagnosed rare diseases. This work includes genetic analysis, in silico studies, and cellular and molecular biology to identify new genetic variants, determine their pathogenicity, study the pathophysiology of diseases, and explore new therapeutic targets.
Research lines:
- BETTER_Better rEal-world healTh-daTa distributEd analytics Research platform (HORIZON-EU).
- Genes y Fenotipos de Síndromes Parkinsonianos: validación funcional de hallazgos genéticos - ParkGenPhen.
- El cerebro clínico del síndrome Coffin-Siris: Estudio integral de un trastorno del neurodesarrollo.
- The Copper (less) program: Treating and Futures Perspectives for Menkes.
- El paisaje entre el fenotipo y el genotipo de enfermedades neurológicas del desarrollo: Validación de un modelo de biología funcional clínica.
Last Publications
- 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.
- Pijuan-Marquilles J, Moreno, DF, Yahya, G, Moisa, M, Ul Haq, I, Krukiewicz, K, Mosbah, R, Metwally, K and Cavalu, S Regulatory and pathogenic mechanisms in response to iron deficiency and excess in fungi Microbial Biotechnology . 16(11): 2053-2071.
Projects
- 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 - 2025
- Project name:
- SGR 2022-2024_Precision Medicine of Genetic and Rare Diseases (PrecisionRare)
- Leader
- Francesc Palau Martínez
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2021 SGR 01610
- Starting - finishing date:
- 2022 - 2025
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.