© 2015

Rare Diseases

Integrative PPPM Approach as the Medicine of the Future

  • Meral Özgüç
  • 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 personalized medicine


Part of the Advances in Predictive, Preventive and Personalised Medicine book series (APPPM, volume 6)

Table of contents

  1. Front Matter
    Pages i-xviii
  2. Domenica Taruscio, Amalia Egle Gentile, Marta De Santis, Rita Ferrelli, Rosa Giuseppa Frazzica, Georgi Iskrov et al.
    Pages 1-22
  3. Filippo Beleggia, Bernd Wollnik
    Pages 33-45
  4. Jessica Ordóñez, Oscar Diaz-Horta, Mustafa Tekin
    Pages 47-59
  5. Maria Judit Molnar, Klara Pentelenyi
    Pages 61-67
  6. Nima Moaven, Nahid Tayebi, Ehud Goldin, Ellen Sidransky
    Pages 69-90
  7. Vassili Valayannopoulos
    Pages 91-107
  8. Nikolajs Zeps, Chris Hemmings
    Pages 109-130
  9. Back Matter
    Pages 175-208

About this book


This book focuses on predictive, preventative and personalised 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 personalised 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 all medical branches. The authors cover ethical considerations, the creation of a robust platform for professional communication, synergies with patient organisations, “doctor-patient” collaboration and a new philosophy of integrative medicine by PPPM.

This volume serves as a reference source for scientific and medical centres in the field and can be used both at medical curricula and graduate level in the life sciences. Those who place a special emphasis on healthcare promotion and innovations intended to combat rare diseases, save the affected lives and enhance life quality will all find this book of great value.


Invivo disease models Personalized medicine Personalized therapies Personel genome based diagnosis Rare Diseases

Editors and affiliations

  • Meral Özgüç
    • 1
  1. 1.Faculty of Medicine, Medical BiologyHacettepe UniversityAnkaraTurkey

Bibliographic information

  • Book Title Rare Diseases
  • Book Subtitle Integrative PPPM Approach as the Medicine of the Future
  • Editors Meral Özgüç
  • Series Title Advances in Predictive, Preventive and Personalised Medicine
  • Series Abbreviated Title Advances in Predictive, Preventive
  • DOI
  • Copyright Information Springer Science+Business Media Dordrecht 2015
  • Publisher Name Springer, Dordrecht
  • eBook Packages Medicine Medicine (R0)
  • Hardcover ISBN 978-94-017-9213-4
  • Softcover ISBN 978-94-024-0802-7
  • eBook ISBN 978-94-017-9214-1
  • Series ISSN 2211-3495
  • Series E-ISSN 2211-3509
  • Edition Number 1
  • Number of Pages XVIII, 208
  • Number of Illustrations 1 b/w illustrations, 11 illustrations in colour
  • Topics Biological Techniques
    Cell Biology
    Metabolic Diseases
  • Buy this book on publisher's site
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