Rare Diseases: Integrative PPPM Approach as the Medicine of the Future
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...
Gespeichert in:
Format: | Elektronisch E-Book |
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Sprache: | English |
Veröffentlicht: |
Dordrecht
Springer Netherlands
2015
|
Ausgabe: | 1st ed. 2015 |
Schriftenreihe: | Advances in Predictive, Preventive and Personalised Medicine
|
Schlagworte: | |
Online-Zugang: | UBR01 URL des Erstveröffentlichers |
Zusammenfassung: | 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 |
Beschreibung: | National Plans on rare diseases -- Biobanking for rare diseases - Impact on personalized medicine -- Emerging Technologies for Gene Identification in Rare Diseases,- Personalized Medicine for Hereditary Deafness -- Mitochondrial Diseases -- Enzyme Replacement Therapy in Lysosomal Storage Diseases -- Complexity of Genotype-Phenotype Correlations in Mendelian Disorders: Lessons from Gaucher Disease -- Rare Cancers -- Adeno-Associated Virus Gene Therapy and its Application to the Prevention and Personalized Treatment of Rare Diseases -- Induced pluripotency for the study of disease mechanisms and cell therapy |
Beschreibung: | 1 Online Ressource (XVIII, 208 Seiten, 12 Illustrationen, 11 Illustrationen in Farbe) |
ISBN: | 9789401792141 |
DOI: | 10.1007/978-94-017-9214-1 |
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edition | 1st ed. 2015 |
format | Electronic eBook |
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spelling | Rare Diseases Integrative PPPM Approach as the Medicine of the Future edited by Meral Özgüç 1st ed. 2015 Dordrecht Springer Netherlands 2015 1 Online Ressource (XVIII, 208 Seiten, 12 Illustrationen, 11 Illustrationen in Farbe) txt rdacontent c rdamedia cr rdacarrier Advances in Predictive, Preventive and Personalised Medicine National Plans on rare diseases -- Biobanking for rare diseases - Impact on personalized medicine -- Emerging Technologies for Gene Identification in Rare Diseases,- Personalized Medicine for Hereditary Deafness -- Mitochondrial Diseases -- Enzyme Replacement Therapy in Lysosomal Storage Diseases -- Complexity of Genotype-Phenotype Correlations in Mendelian Disorders: Lessons from Gaucher Disease -- Rare Cancers -- Adeno-Associated Virus Gene Therapy and its Application to the Prevention and Personalized Treatment of Rare Diseases -- Induced pluripotency for the study of disease mechanisms and cell therapy 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 Biology-Technique Cell biology Pediatrics Metabolic diseases Individualisierte Medizin (DE-588)7660544-9 gnd rswk-swf Humangenetik (DE-588)4072653-8 gnd rswk-swf Seltene Krankheit (DE-588)4180919-1 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Seltene Krankheit (DE-588)4180919-1 s Individualisierte Medizin (DE-588)7660544-9 s Humangenetik (DE-588)4072653-8 s DE-604 Özgüç, Meral 1951- Sonstige (DE-588)1064800939 oth Erscheint auch als Druck-Ausgabe 9789401792158 Erscheint auch als Druck-Ausgabe 9789401792134 Erscheint auch als Druck-Ausgabe 9789402408027 https://doi.org/10.1007/978-94-017-9214-1 Verlag URL des Erstveröffentlichers Volltext |
spellingShingle | Rare Diseases Integrative PPPM Approach as the Medicine of the Future Biology-Technique Cell biology Pediatrics Metabolic diseases Individualisierte Medizin (DE-588)7660544-9 gnd Humangenetik (DE-588)4072653-8 gnd Seltene Krankheit (DE-588)4180919-1 gnd |
subject_GND | (DE-588)7660544-9 (DE-588)4072653-8 (DE-588)4180919-1 (DE-588)4143413-4 |
title | Rare Diseases Integrative PPPM Approach as the Medicine of the Future |
title_auth | Rare Diseases Integrative PPPM Approach as the Medicine of the Future |
title_exact_search | Rare Diseases Integrative PPPM Approach as the Medicine of the Future |
title_exact_search_txtP | Rare Diseases Integrative PPPM Approach as the Medicine of the Future |
title_full | Rare Diseases Integrative PPPM Approach as the Medicine of the Future edited by Meral Özgüç |
title_fullStr | Rare Diseases Integrative PPPM Approach as the Medicine of the Future edited by Meral Özgüç |
title_full_unstemmed | Rare Diseases Integrative PPPM Approach as the Medicine of the Future edited by Meral Özgüç |
title_short | Rare Diseases |
title_sort | rare diseases integrative pppm approach as the medicine of the future |
title_sub | Integrative PPPM Approach as the Medicine of the Future |
topic | Biology-Technique Cell biology Pediatrics Metabolic diseases Individualisierte Medizin (DE-588)7660544-9 gnd Humangenetik (DE-588)4072653-8 gnd Seltene Krankheit (DE-588)4180919-1 gnd |
topic_facet | Biology-Technique Cell biology Pediatrics Metabolic diseases Individualisierte Medizin Humangenetik Seltene Krankheit Aufsatzsammlung |
url | https://doi.org/10.1007/978-94-017-9214-1 |
work_keys_str_mv | AT ozgucmeral rarediseasesintegrativepppmapproachasthemedicineofthefuture |