Francesc Palau Martínez

PhD in Medicine from the Universitat de Valencia, and Research Professor of the Spanish National Research Council (CSIC). I am a specialist in Paediatrics, accredited in Clinical and Human Genetics. Currently, I am the Chairman of the SJD Únicas Research Advisory Board.

I have been Head of the Genetic and Molecular Medicine Department at SJD Barcelona Children's Hospital, Director of the Institute for Rare Childhood Disorders, and Director of the Paediatric Research Institute at SJD Barcelona Children's Hospital. I lead a CIBER research group into Rare Diseases (CIBERER). We transform rarities into knowledge, in order to care for and cure children with rare diseases.

I am a great lover of literature. For me, travelling is about getting to know other cultures and making them my own to some extent. And if I have to choose a meal, I would lean towards the Valencian rice - dishes of my homeland - and a particularly dish of oven-cooked rice.

Training

• Accreditation in Clinical Genetics and Dysmorphology, Spanish Paediatrics Association (2000).
• Accreditation in Human Genetics, Spanish Association for Human Genetics (2000).
• Doctor of Medicine (PhD), University of Valencia (1989).
• Paediatrics Specialist, Children’s Hospital, La Fe University Hospital (Valencia, 1988).
• Bachelor of Medicine and Surgery (MD), University of Valencia (1982).

Scientific activity

• Director and researcher at the Sant Joan de Déu Research Institute (IRSJD), until February 2023.
• Research Professor of the Higher Council for Scientific Research (CSIC).
• Editor-in-Chief, Orphanet Journal of Rare Diseases.
• Orphanet-Spain Coordinator.
• Member, Scientific Advisory Committee of Telethon Italia and of the Fondation de Maladies Rares de France.
• Reina Sofía Award for the Prevention of Deficiencies.

See all the scientific activity

Teaching

• Associate professor of Paediatrics, Faculty of Medicine, University of Barcelona, 2015 to the present.
• Director, Master's Degree in Clinical Genetics and Rare Diseases, SJD Barcelona Children's Hospital - University of Barcelona.