LEADER 04677nam 22007575 450 001 9910300240003321 005 20230810224242.0 010 $a94-017-9214-3 024 7 $a10.1007/978-94-017-9214-1 035 $a(CKB)3710000000230892 035 $a(EBL)1966871 035 $a(OCoLC)890723646 035 $a(SSID)ssj0001354265 035 $a(PQKBManifestationID)11777056 035 $a(PQKBTitleCode)TC0001354265 035 $a(PQKBWorkID)11323212 035 $a(PQKB)10191464 035 $a(DE-He213)978-94-017-9214-1 035 $a(MiAaPQ)EBC1966871 035 $a(PPN)181350424 035 $a(EXLCZ)993710000000230892 100 $a20140908d2015 u| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aRare Diseases $eIntegrative PPPM Approach as the Medicine of the Future /$fedited by Meral Özgüç 205 $a1st ed. 2015. 210 1$aDordrecht :$cSpringer Netherlands :$cImprint: Springer,$d2015. 215 $a1 online resource (219 p.) 225 1 $aAdvances in Predictive, Preventive and Personalised Medicine,$x2211-3509 ;$v6 300 $aDescription based upon print version of record. 311 $a94-017-9213-5 320 $aIncludes bibliographical references and index. 327 $aNational 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. 330 $aThis book focuses on predictive, preventative and personalised medicine (PPPM) and how it is related to the healthcare of rare diseases. Readers will discover how advanced rare diseases healthcare provides an excellent ?proof-of-principles? for the personalisation of healthcare systems on a global scale. Chapters look at national plans for rare disease, at biobanking, gene identification, rare cancers, virus gene therapy , induced pluripotency for cell therapy amongst  other topics. There is a chapter dedicated to personalised medicine for hereditary deafness, and another exploring the complexity of genotype-phenotype correlations. Specific diseases such as Fabry's, Gauchers and mitochondrial cytopathies are highlighted and we look at enzyme replacement therapy in lysosomal storage diseases. This work is part of a series, produced with the involvement of the European Association for Predictive, Preventive and Personalised Medicine. The series focusses on the concept of an integrative medical approach by PPPM. This volume is dedicated to all aspects related to the prediction, prevention and personalised treatments of rare diseases, and in doing so it explores developments relevant to all medical branches. The authors cover ethical considerations, the creation of a robust platform for professional communication, synergies with patient organisations, ?doctor-patient? collaboration and a new philosophy of integrative medicine by PPPM. This volume serves as a reference source for scientific and medical centres in the field and can be used both at medical curricula and graduate level in the life sciences. Those who place a special emphasis on healthcare promotion and innovations intended to combat rare diseases, save the affected lives and enhance life quality will all find this book of great value. 410 0$aAdvances in Predictive, Preventive and Personalised Medicine,$x2211-3509 ;$v6 606 $aBiology$xTechnique 606 $aCytology 606 $aPediatrics 606 $aDiseases 606 $aBiological Techniques 606 $aCell Biology 606 $aPediatrics 606 $aDiseases 615 0$aBiology$xTechnique. 615 0$aCytology. 615 0$aPediatrics. 615 0$aDiseases. 615 14$aBiological Techniques. 615 24$aCell Biology. 615 24$aPediatrics. 615 24$aDiseases. 676 $a570 676 $a570.28 676 $a571.6 676 $a616.39 702 $aÖzgüç$b Meral$4edt$4http://id.loc.gov/vocabulary/relators/edt 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910300240003321 996 $aRare Diseases$91764285 997 $aUNINA