Rare diseases : integrative PPPM approach as the medicine of the future /: integrative PPPM approach as the medicine of the future. (2014)

• Record Type: Book
• Further Information: Note: Meral Özgüc̦, editor.
• Editors: Özgüç, Meral, 1951-
• Contents: 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. 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. 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. 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? 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. 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.
• Publisher Details: New York : Springer
• Publication Date: 2014
• Extent: 1 online resource
• Subjects: 616; Rare diseases; HEALTH & FITNESS -- Diseases -- General; MEDICAL -- Clinical Medicine; MEDICAL -- Diseases; MEDICAL -- Evidence-Based Medicine; MEDICAL -- Internal Medicine; Rare diseases; Biology; Health & Biological Sciences; Biology - General; Pathologic Processes; Medicine; Pathological Conditions, Signs and Symptoms; Health Occupations; Disciplines and Occupations; Disease; Rare Diseases; Preventive Medicine; Disease Attributes; Public Health; Electronic books
• Languages: English
• ISBNs: 9789401792141; 9401792143
• Related ISBNs: 9789401792134
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.