书目名称 | Rare Diseases | 副标题 | Integrative PPPM App | 编辑 | Meral Özgüç | 视频video | | 概述 | State of the art of emerging genomics technologies for diagnosis.New insights into personalized therapy modalities.Serves as curriculum material for paradigm change towards predictive, preventive and | 丛书名称 | Advances in Predictive, Preventive and Personalised Medicine | 图书封面 |  | 描述 | 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 Personalised Medicine. The series focusses on the concept of an integrative medical approach by PPPM. This volume is dedicated to all aspects related to the prediction, prevention and personalised treatments of rare diseases, and in doing so it explores developments relevant to | 出版日期 | Book 2015 | 关键词 | Invivo disease models; Personalized medicine; Personalized therapies; Personel genome based diagnosis; R | 版次 | 1 | doi | https://doi.org/10.1007/978-94-017-9214-1 | isbn_softcover | 978-94-024-0802-7 | isbn_ebook | 978-94-017-9214-1Series ISSN 2211-3495 Series E-ISSN 2211-3509 | issn_series | 2211-3495 | copyright | Springer Science+Business Media Dordrecht 2015 |
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