Enhanced digital edition

– available also in Italian –

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Explore the digital chapters of the volume from the INDEX menu or from the BUTTONS on this page and discover pop-ups and links to the main web portals of reference in the rare disease landscape.

Are rare diseases really rare? There are more than 6,000 “orphan diseases”, 80% of which are gene-related, leading to chronicity, discrimination and loneliness. However, there are numerous support networks capable of taking care of patients and their caregivers, from diagnosis to identification of the most suitable therapies, thanks to the expertise of experts and specialized centers in Italy and in Europe. This book is an introductory tool to orient oneself, understand and begin to move around in the complex and constantly evolving panorama of rare diseases.

Franco Bazzoli – Full Professor of Gastroenterology, Dep. of Medical and Surgical Sciences, Alma Mater Studiorum – University of Bologna
Raffaella Campaner – Associate Professor of Logic and Philosophy of Science, Dep. of Philosophy and Communication Studies, Alma Mater Studiorum – University of Bologna
Marianna Cavazza – Associate Professor of Practice GHNP e Cergas – SDA Bocconi School of Management
Giovanna Cenacchi – Full Professor of Pathology, Dep. of Biomedical and Neuromotor Sciences, Alma Mater Studiorum – University of Bologna
Maura Foresti – Psychologist, psychotherapist, Rare Congenital-Malformative Diseases, S. Orsola University Hospital of Bologna
Pamela Magini – PhD in Human Genetics and Executive Biologist, U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna

Laura Mazzanti – Alma Mater Honorary Professor in Pediatrics, HCP AUO S. Orsola ERN ITHACA, Pediatric Rare Diseases Unit, S. Orsola University Hospital, Bologna
Annamaria Perri – Medical Manager of O.U. Rare Congenital-Malformative Diseases, Paediatrics Unit of S. Orsola University Hospital of Bologna
Emanuela Scarano – Pediatric Medical Doctor, Rare Congenital-Malformative Diseases, S. Orsola University Hospital of Bologna
Marco Seri – Full Professor of Medical Genetics, Dep. of Medical and Surgical Sciences, Alma Mater Studiorum – University of Bologna
Rocco Maurizio Zagari – Associate Professor of Gastroenterology, Dep. of Medical and Surgical Sciences, Alma Mater Studiorum – University of Bologna
Silvia Zullo – Associate Professor of Philosophy of Law and Bioethics, Dep. of Legal Studies, Alma Mater Studiorum – University of Bologna