Epigenetics and Rare Diseases

Epigenetics, as well as all -omics fields of study, such as transcriptomics, proteomics and metabolomics, have caused a revolution in all branches of medicine in recent years. This book provides a detailed evidence-based overview of the latest developments in how the recent acquisitions on the human genome and epigenome is relevant, and how it impacts our understanding of rare diseases of the immune system. The first part features the evolving thread from genetics to epigenetics, their molecular basis, endocrine disruptors, as well as chapters devoted to the fetal programming hypothesis and functional basis of neurodevelopment, and the placenta as originating element. Successive chapters include contributions on the impact of epigenetics on cancer, as well as a comprehensive array of disorders as autoimmune disorders, allergic and metabolic diseases, systemic vasculitis, aging and inflammatory diseases, neurological and psychiatric conditions. The overview closes with considerations on the “-Omics” revolution and precision medicine, and the reflection of epigenetics on the microbiome.
By providing guidance on how the latest information can be applied by the medical practitioner in day-to-day clinical practice, and collating the latest developments in rare diseases treatments to the “omics” that are relevant for the clinician while advocating for a patient-centered approach, Epigenetics and Rare Diseases will be a valued resource for clinicians, healthcare professionals, and patient associations.

Lorenzo Emmi headed the Reference Center for Systemic Autoimmune Diseases, at AOU Careggi Hospital, Florence for many years, teaching at several medical schools at Florence University. He is author of many articles in international peer-reviewed journals and author/editor of volumes related to his field of activity. He has lead a group of rheumatologists in the preparation of Regional guidelines on systemic autoimmune diseases and is currently in charge, as head of the Center for Autoimmune Diseases, of establishing a regional network on allergologic diseases for the Tuscany region. Dr. Emmi is series editor with Professor Domenico Prisco.
Vassilios Fanos is Chief of the Neonatal Intensive Care Unit at the Puericulture Institute and Neonatal Section, Cagliari University Hospital, Italy. After earning his MD with honors in 1982 from the University of Padua, he qualifyed in pediatrics, neonatal pathology and intensive care postgraduate degrees with full marks from Verona University, School of Medicine and Surgery. He became Associate Professor of Pediatrics at the University of Cagliari in 2003, and Board member of the Italian Society of Neonatology for 9 years (6 Secretary, 3 treasurer). He is Founder, Past Executive Board Member and Scientific Officer UENPS (Union European Neonatal Perinatal Societies), past Board member UMENS (Union MEditerranean Neonatal Societies) and President of the Italian Pediatric Commission on Risk Management. Awarded prices at National and International meetings, he also acts as Member of the European Workshop of Neonatology (since 1986) and of the International Perinatal Collegium (since 2011). Professor Fanos coordinates several multicenter clinical researches in neonatology, including a major grant from the Italian Ministry of Health (1st among 245 projects) on metabolomics and neonatal sepsis. His areas of scientific interest include: nephrology, pharmacology, infections, laboratory medicine, pathology, metabolomics (59 collaborations in metabolomics with 15 countries). Vassilios Fanos is also acting as Editor in Chief of the Journal of Pediatric and Neonatal Individualized Medicine, board member and referee of many International Journals. He has been lecturing and organizing over 56 Congresses and International Workshops on Neonatology, while authoring more than 500 publications (of which 258 on Pub Med) in National and International Journals, and contributing to 30 books and proceedings.