Rare Diseases

1. Front Matter

   Pages i-xviii

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2. National Plans on Rare Diseases

   • Domenica Taruscio, Amalia Egle Gentile, Marta De Santis, Rita Ferrelli, Rosa Giuseppa Frazzica, Georgi Iskrov et al.

   Pages 1-22

3. Biobanking for Rare Diseases – Impact on Personalised Medicine

   • Jeanne-Hélène di Donato

   Pages 23-31

4. Emerging Technologies for Gene Identification in Rare Diseases

   • Filippo Beleggia, Bernd Wollnik

   Pages 33-45

5. Personalized Medicine for Hereditary Deafness

   • Jessica Ordóñez, Oscar Diaz-Horta, Mustafa Tekin

   Pages 47-59

6. Mitochondrial Diseases

   • Maria Judit Molnar, Klara Pentelenyi

   Pages 61-67

7. Complexity of Genotype-Phenotype Correlations in Mendelian Disorders: Lessons from Gaucher Disease

   • Nima Moaven, Nahid Tayebi, Ehud Goldin, Ellen Sidransky

   Pages 69-90

8. Enzyme Replacement Therapy in Lysosomal Storage Diseases

   • Vassili Valayannopoulos

   Pages 91-107

9. Rare Cancers

   • Nikolajs Zeps, Chris Hemmings

   Pages 109-130

10. Adeno-Associated Virus Gene Therapy and Its Application to the Prevention and Personalised Treatment of Rare Diseases

    • Konstantina Grosios, Harald Petry, Jacek Lubelski

    Pages 131-157

11. Induced Pluripotency for the Study of Disease Mechanisms and Cell Therapy

    • Toivo Maimets

    Pages 159-173

12. Back Matter

    Pages 175-208

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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 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
• metabolic disease

• Faculty of Medicine, Medical Biology, Hacettepe University, Ankara, Turkey

  Meral Özgüç

Policies and ethics