Rare Diseases : Springer : 9789401792134 : 9401792135 : 19 Sep 2014 : This book focuses on predictive, preventative and personalized medicine (PPPM) and how it is related to the healthcare of rare diseases. Readers will discover how advanced rare diseases healthcare provides an excellent ?proof-of-principles? for the personalisation of healthcare systems on a global scale. Chapters look at national plans for rare disease, at biobanking, gene identification, rare cancers, virus gene therapy , induced pluripotency for cell therapy amongst other topics. There is a chapter dedicated to personalized medicine for hereditary deafness and another exploring the complexity of genotype-phenotype correlations. Specific diseases such as Fabry's, Gauchers and mitochondrial cytopathies are highlighted and we look at enzyme replacement therapy in lysosomal storage diseases. This work is part of a series, produced with the involvement of the European Association for Predictive, Preventive and Personali