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 obtained the master's degrees in Advanced Microbiology from the University of Barcelona and a master's degree in Biotechnology in health sciences. He has a PhD in Molecular Biology from the University of Lleida since 2015.
During the academic year 2017/2018 he served as associate professor in the degree of Physiotherapy and Human Nutrition and Dietetics of the University of Lleida.
In 2018, he joined as a postdoctoral researcher in the group of Neurogenetics and Molecular Medicine (Sant Joan de Déu Research Institute), where his research activity focuses on the functional validation of genetic variants in patients with neurological diseases of development.
Last Publications
- 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.
- Nascimento-Osorio A, Bruels CC, Donkervoort S, Foley AR, Codina-Bergadà A, Milisenda JC, Estrella EA, Li C, Pijuan-Marquilles J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Martorell-Sampol L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez-Gonzalez CI, Palau F, Ghosh PS, Darras BT, Jou-Munoz C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB and Natera-de Benito D Variants in DTNA cause a mild, dominantly inherited muscular dystrophy ACTA NEUROPATHOLOGICA . 145(4): 479-496.
- Pijuan-Marquilles J, Macià A and Panosa A Live Cell Adhesion, Migration, and Invasion Assays. Methods In Molecular Biology (clifton, N.J.) . 2644: 313-329.
Projects
- Project name:
- BETTER_Better rEal-world healTh-daTa distributEd analytics Research platform
- Leader
- Francesc Palau Martínez
- Funding entities:
- European Commission
- Code
- 101136262
- Starting - finishing date:
- 2023 - 2027
- 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
- Project name:
- El cerebro clínico del síndrome Coffin-Siris: Estudio integral de un trastorno del neurodesarrollo
- Leader
- Francesc Palau Martínez, Janet Hoenicka
- Funding entities:
- Hospital Sant Joan de Déu - Esplugues HSJD
- Code
- BR201901
- Starting - finishing date:
- 2020 - 2024
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.