Jordi Pijuan Marquilles
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.
Professional network profiles
- Martinez-Esteve Melnikova A, Pijuan J, Aparicio J, Ramírez-Camacho A, Altisent-Huguet A, Vilanova-Adell A, Arzimanoglou Alexandros, Armstrong-Moron J, Palau F, Hoenicka J and San Antonio-Arce MV The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient. EUROPEAN JOURNAL OF MEDICAL GENETICS . 65(3): 104442-104442.
- Pijuan J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent-Huguet A, Díaz-Osorio Y, Carrera-García L, Expósito-Escudero J, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases. FRONTIERS IN NEUROSCIENCE . 16: 784880-784880.
- Yahya G, Hashem Mohamed N, Pijuan J, Seleem NM, Mosbah R, Hess S, Abdelmoaty AA, Almeer R, Abdel-Daim MM, Shulaywih Alshaman H, Juraiby I, Metwally K and Storchova Z Profiling the physiological pitfalls of anti-hepatitis C direct-acting agents in budding yeast. Microbial Biotechnology . 14(5): 2199-2213.
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.