Special Interview with Prof. Francesc Palau
On March 14, 2025, Journal of Translational Genetics and Genomics (JTGG) had the privilege of interviewing Prof. Francesc Palau, who shared insights into the latest advancements in genomic technologies and their impact on rare disease research. Recent breakthroughs have significantly enhanced the understanding and diagnosis of rare diseases, with 70–80% of these conditions having a genetic basis. Prof. Palau highlighted how next-generation sequencing (NGS), whole-exome sequencing (WES), RNA sequencing, and optical mapping have revolutionized the field by improving diagnostic accuracy and enabling functional validation of genetic variants. He shared a compelling case of an 80-year-old patient with severe neurodevelopmental issues, where genetic analysis identified an MB5 gene mutation, ultimately confirming the diagnosis through functional genomic studies. Prof. Palau also emphasized that rare disease research has broader implications, citing studies on familial hypercholesterolemia, which contributed to the development of statins for cardiovascular disease. Encouraging young scientists to enter the field, he stressed the importance of scientific curiosity, clinical applications, and interdisciplinary collaboration to drive medical innovation.
Click the link for the full interview: JTGG Academic Talks
About Prof. Francesc Palau
Prof. Francesc Palau is the Head of the Department of Genetic and Molecular Medicine and Director of the Pediatric Institute of Rare Diseases (IPER) at Sant Joan de Déu Children's Hospital in Barcelona, where he also leads the hospital's research institute. His research group is part of the Center for Biomedical Network Research on Rare Diseases (CiBERER), where he served as Scientific Director (2006–2016). A research professor at the Spanish National Research Council (CSIC) and a visiting professor at the University of Barcelona, he has made significant contributions to the genetic and pathophysiological understanding of neuromuscular and neurodevelopmental diseases. His achievements include the positional cloning of the FXN gene (Friedreich’s ataxia), the discovery of Charcot-Marie-Tooth disease genes (GDAP1 and MORC2), and studies on mitochondrial dysfunction in axonal neuropathies. Recognized with prestigious awards such as the Queen Sofia Award for the Prevention of Deficiencies and the Spanish Alliance of Rare Diseases Research Prize, Prof. Palau has also served on various international committees, including the Scientific Committee of the Fondation de Maladies Rares, the European Society of Human Genetics, and the European Union Committee of Experts on Rare Diseases. Currently, he coordinates Spain’s National Strategy on Rare Diseases and Orphanet-Spain.
Editor: Iris Zhang
Language Editor: Catherine Yang
Production Editor: Ting Xu
Respectfully Submitted by the Journal Editorial Office of Journal of Translational Genetics and Genomics
