Francesc Palau Martínez
Jefe de Grupo Senior
Research group
Francesc Palau graduated in Medicine and Surgery in 1982 from the University of Valencia, and obtained his Doctor of Medicine degree from the University of Valencia in 1989.
Between 1985 and 1989 he specialized in Pediatrics at the Children's Hospital of La Fe University Hospital in Valencia, with specific training in clinical and human genetics.
Between the years 1989 and 1990 he did a postdoctoral stay in the Department of Biochemistry and Molecular Genetics of St. Mary's Hospital Medical School of the University of London, where he studied the genetics and positional cloning of the Friedreich's ataxia gene.
He has been a specialist faculty member in the Genetics Unit and the Department of Pediatric Medicine at La Fe University Hospital from 1991 to 2000, and a researcher at the Biomedicine Institute of Valencia of the Superior Council of Scientific Research (CSIC) from 2000 to 2015, being currently research professor on leave. He is a researcher at the CIBER for Rare Diseases, of which he was scientific director between 2006 and 2016.
In 2015 he joined Hospital Sant Joan de Déu as head of the Genetic and Molecular Medicine Service, and director of the Pediatric Institute of Rare Diseases (IPER), a position he held until July 2024. He was director of the Sant Joan de Recerca Institute Déu from 2015 to 2022 consultant at the Hospital Clínic de Barcelona. He is a medical associate professor of Pediatrics at the University of Barcelona.
Currently, as SJD Distinguished Investigator, he co-leads the research group in Neurogenetics and Molecular Medicine where he studies the mechanisms involved in the axonopathies of neurogenetic diseases, the genetics and genomics of neurological and developmental diseases, and the gap between the genotype and the phenotype of rare diseases.
Professional network profiles
Related websites
Last Publications
- Dominguez-Brezosa L, Cantarero-Abad L, Rodríguez-Sanz M, Tort-Vázquez G, Garrido E, Johanna Troya Balseca, Saez M, Castro-Martinez X, Fernandez-Lizarbe S, Urquizu E, Calvo E, Lopez JA, Palomo T, Palau F and Hoenicka J ANKK1 Is a Wnt/PCP Scaffold Protein for Neural F-ACTIN Assembly INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(19): 10705.
- Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases EUROPEAN JOURNAL OF HUMAN GENETICS . : .
- Cascajo-Almenara MV, Julià-Palacios NA, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva-Mussara C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart-Lopez J, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero-Siles D, Garcia-Cazorla A, Bhan-Pandey U, Santos-Ocaña C and Artuch-Iriberri R Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment EUROPEAN JOURNAL OF HUMAN GENETICS . 32(4): 426-434.
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:
- The clinical brain of coffin-siris syndrome: comprehensive approach to a neurodevelopmental disorder
- Leader
- Francesc Palau Martínez
- Funding entities:
- ASOCIACIÓN ESPAÑOLA COFFIN-SIRIS
- Code
- PFNR0183
- Starting - finishing date:
- 2023 - 2024
- 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
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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.
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First scientific conference on nanotechnology and rare diseases
The Spanish nanomedicine platform (Nanomed Spain), together with the Sant Joan de Déu Research Institute and the IBEC (Institute of Bioengineering of Catalonia), organised an event within the framework of the Rare Disease Day at which they presented the latest innovations in the field of nanomedicine for the treatment and diagnosis of these diseases.