Maria Rodriguez Sanz
Ayudante de investigación
Research group
Research line:
Neuro-landscape. Developmental disorders.
The researcher Maria Rodriguez Sanz graduated in Biology in 2008 from the University of Barcelona. Between 2011-2012 she completed the official master's degree in Human Genetics and Developmental Biology at the University of Barcelona and obtained her PhD in Biomedicine from Pompeu Fabra University in 2016. She also completed the Big Data Processing Postgraduate for Life Sciences offered by the Autonomous University of Barcelona.
She is currently a postdoctoral researcher at the Neurogenetics and Molecular Medicine laboratory, where she investigates the molecular bases of diseases of the development and functioning of the central and peripheral nervous system. Her work focuses on computational analysis of images obtained by microscopy for the Neuro-landscape project, which aims to find variants in candidate genes as a possible cause of illness in children with rare neurological diseases who do not have a diagnosis, as well as to determine the pathogenic effect of these in cellular models.
Professional network profiles
Last Publications
- Pijuan-Marquilles J, Rodríguez-Sanz M, Natera-de Benito D, Ortez-Gonzalez CI, Altimir A, Osuna-Lopez M, Roura-Llerda M, Ugalde M, Van de Vondel L, Reina-Castillon J, Fons-Estupina C, Benítez R, Nascimento-Osorio A, Hoenicka J and Palau F Translational Diagnostics An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases JOURNAL OF MOLECULAR DIAGNOSTICS . 23(1): 71-90.
- Cantarero-Abad L, Juárez-Escoto E, Civera-Tregon A, Rodriguez-Sanz, Maria, Roldan-Molina M, Benítez R, Hoenicka J and Palau F Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease HUMAN MOLECULAR GENETICS . 29(22): 3589-3605.
Projects
- Project name:
- Validación de variants genñeticas de significado incierto mediante genómica funcional
- Leader
- Janet Hoenicka
- Funding entities:
- Consorcio Centro de Investigación Biomédica en Red (CIBER)
- Code
- PCP00391
- Starting - finishing date:
- 2023 - 2024
- Project name:
- Dinámica de la membrana mitocondrial y sus sitios de contacto entre orgánulos en la fisiopatología celular y del nervio de la enfermedad neurogenética
- Leader
- Francesc Palau Martínez, Janet Hoenicka
- Funding entities:
- Ministerio de Economía Y Competitividad (MINECO)
- Code
- PID2020-114655RB-100
- Starting - finishing date:
- 2021 - 2024
- 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