Dr Francesc Palau leads the edition of the new Nelson Pediatric Textbook of Rare Diseases, an international reference work

Dr Francesc Palau, SJD Distinguished Researcher at the Institut de Recerca Sant Joan de Déu (IRSJD), and member of the Neurogenetics and Molecular Medicine research group, is co-editor of the first edition of the Nelson Pediatric Textbook of Rare Diseases: Genomic Etiologies and Genetic Diagnosis, a new international reference work published by Elsevier as part of the prestigious Nelson collection, considered one of the global standards in paediatrics.

The volume, co-edited with Professor Robert M. Kliegman, brings together the expertise of more than one hundred international experts and provides a comprehensive overview of paediatric rare diseases from a genomic medicine perspective. The book addresses both the molecular bases of these conditions and current strategies for their diagnosis and clinical and therapeutic management, with the aim of facilitating more precise and personalised care for children with rare diseases.

Dr Palau's participation as co-editor reflects his internationally recognised track record in the field of medical genetics and rare diseases. At the IRSJD, he co-leads the Neurogenetics and Molecular Medicine group, which focuses on research into the molecular mechanisms of inherited neurological diseases and on the development of new diagnostic and therapeutic tools. His research activity contributes to translating scientific knowledge into clinical practice, a goal shared by the Institut and SJD Barcelona Children’s Hospital.

Nelson Pediatric Textbook of Rare Diseases: Genomic Etiologies and Genetic Diagnosis

The Nelson Pediatric Textbook of Rare Diseases highlights the central role that genetics has acquired in the diagnosis of rare diseases and offers content structured by systems, with chapters dedicated to neurological, metabolic, immunological, mitochondrial and epigenetic disorders, as well as other groups of rare diseases. The work is aimed at paediatricians, geneticists, hospital specialists and health sciences professionals involved in the care of patients with rare diseases. The textbook comprises 61 chapters, with contributions, across 9 chapters, from 16 physicians from 11 Hospital services and researchers from the Institut de Recerca.

This publication consolidates the international profile of the research carried out at the IRSJD and reinforces the Institute's commitment to the generation and transfer of knowledge in such a relevant field as rare diseases, where biomedical research is key to advancing towards faster diagnoses and new therapeutic opportunities.