Rare diseases : integrative PPPM approach as the medicine of the future / Meral Özgüc̦, editor.
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...
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| Online Access: |
Full Text (via Springer) |
|---|---|
| Other Authors: | |
| Format: | eBook |
| Language: | English |
| Published: |
New York :
Springer,
2014.
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| Series: | Advances in predictive, preventive and personalised medicine ;
v. 6. |
| Subjects: |
MARC
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| 245 | 0 | 0 | |a Rare diseases : |b integrative PPPM approach as the medicine of the future / |c Meral Özgüc̦, editor. |
| 264 | 1 | |a New York : |b Springer, |c 2014. | |
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| 490 | 1 | |a Advances in predictive, preventive and personalised medicine, |v volume 6. | |
| 505 | 0 | |a National plans on rare diseases -- Biobanking for rare diseases : Impact on personalised medicine -- Emerging technologies for gene identification in rare diseases -- Personalized medicine for hereditary deafness -- Mitochondrial diseases -- Complexity of genotype-phenotype correlations in Mendelian disorders : lessons from Gaucher disease -- Enzyme replacement therapy in lysosomal storage diseases -- 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. | |
| 505 | 0 | |a What This Book Series Is About ... ; Current Healthcare: What Is Behind the Issue?; Advanced Healthcare Tailored to the Person: What Is Beyond the Issue?; Why Integrative Medical Approach by PPPM as the Medicine of the Future?; Preface; Contents; Contributors; About the Editor; National Plans on Rare Diseases; 1 Introduction; 2 EU Countries with National Plans at a Glance; 2.1 Bulgaria; 2.2 Czech Republic; 2.3 France; 2.4 Greece; 2.5 Portugal; 2.6 Slovenia; 2.7 Spain; 2.8 The Netherlands; 3 Situation in Eastern European Countries; 3.1 Policy Background. | |
| 505 | 8 | |a 3.2 Rare Diseases National Plans in Eastern Europe; 4 Conclusions; 4.1 Overall Rare Diseases Policy Analysis; RD Policy Planning Process; RD Policy Evaluation Process; 5 Final Remarks; References; Biobanking for Rare Diseases -- Impact on Personalised Medicine; 1 Introduction; 2 Biobank Organisation; 2.1 The Advent of a New Trade; 2.2 Collection Manager; 2.3 Infrastructures as Well as Research Partners; 3 Appropriated Biological Samples for Research on Rare Diseases; 3.1 Pre Analytical Phase; 3.2 Sample Preparation; 3.3 Sample Conservation; 4 Management of Associated Data. | |
| 505 | 8 | |a 5 Supply of Biological Material; 6 Ethical Engagement of Biobanks; 7 Conclusion; References; Emerging Technologies for Gene Identification in Rare Diseases; 1 Introduction; 2 The Old-Fashioned Way of Gene Identification; 3 The Future Is Now; 3.1 Next Generation Sequencing Technologies; 3.2 Whole-Exome Sequencing in Rare Diseases; 3.3 How to Find the Needle in the Haystack; 3.4 Example 1: The Homozygosity Mapping Strategy; 3.5 Example 2: The Pooling Strategy; 3.6 Whole-Genome Sequencing in Rare Diseases; 4 Future Applications; 4.1 Exome/Genome Sequencing for℗ Everybody? | |
| 505 | 8 | |a 4.2 All Genes Identified, What's Next?; References; Personalized Medicine for Hereditary Deafness; 1 Introduction; 2 The Evaluation for Genetic Causes of Hearing Loss in 2013; 2.1 Diagnosis of Hearing Loss Today; 2.2 Hearing Loss Clinical Categorization; 3 Non-syndromic Hearing Loss; 4 Syndromic Hearing Loss; 4.1 The Clinical Genetics Evaluation Today; 5 The Evolution of the Genetic Evaluation of Hearing Loss; 6 Future Directions; References; Mitochondrial Diseases; 1 Prevalence; 2 Manifestation of Mitochondrial Diseases; 3 Genetic Motives of Mitochondrial Diseases; 4 Frequent mtDNA Diseases. | |
| 505 | 8 | |a 5 Nuclear Encoded Mitochondrial Disease Groups; 6 Defect of Intergenomial Communication; 7 Diagnostic Principles [5]; 8 Therapeutic Principles [13]; References; Complexity of Genotype-Phenotype Correlations in Mendelian Disorders: Lessons from Gaucher Disease; 1 Introduction; 2 Overview of Gaucher Disease; 2.1 History of Gaucher Disease; 2.2 Gaucher Disease: A Simple Disorder with Complex Features; 2.3 Types of Gaucher Disease; 2.4 Clinical Manifestations of Gaucher Disease; Visceral Involvement; Skeletal Involvement; Hematopoietic Involvement; Gaucher Disease and Parkinsonism. | |
| 520 | |a 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 in Mendelian disorders. | ||
| 588 | 0 | |a Title from PDF title page (Ebsco; viewed on Sept. 17, 2014) | |
| 650 | 0 | |a Rare diseases. |0 http://id.loc.gov/authorities/subjects/sh92005613. | |
| 650 | 7 | |a Rare diseases. |2 fast |0 (OCoLC)fst01090123. | |
| 700 | 1 | |a Özgüç, Meral, |d 1951- |e editor. |0 http://id.loc.gov/authorities/names/nb2014028703 |1 http://isni.org/isni/0000000444506652. | |
| 776 | 0 | 8 | |i Print version: |t Rare Diseases : Integrative PPPM Approach as the Medicine of the Future. |d Dordrecht : Springer Netherlands, ©2014 |z 9789401792134. |
| 830 | 0 | |a Advances in predictive, preventive and personalised medicine ; |v v. 6. |0 http://id.loc.gov/authorities/names/no2013030833. | |
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