rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    title: Rare Diseases
    sub title: Integrative PPPM Approach as the Medicine of the Future
  name:
    name part: Özgüç, Meral.
    role:
      role term: editor.
  name:
    name part: SpringerLink (Online service)
  type of resource: text
  origin info:
    place:
      place term: ne
    date issued: 2015
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: electronic
    form: electronic resource
    reformatting quality: access
    form: remote
    extent: XVIII, 208 p. 12 illus., 11 illus. in color. online resource.
  abstract: 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.
  table of contents: 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.
  note: edited by Meral Özgüç.
  subject:
    topic: Life sciences
  subject:
    topic: Metabolic diseases
  subject:
    topic: Pediatrics
  subject:
    topic: Cell biology
  subject:
    topic: Biology
    topic: Technique
  subject:
    topic: Life Sciences
  subject:
    topic: Biological Techniques
  subject:
    topic: Cell Biology
  subject:
    topic: Pediatrics
  subject:
    topic: Metabolic Diseases
  classification: QH324
  classification: 570.28
  related item:
    title info:
      title: Springer eBooks
  related item:
    title info:
      title: Advances in Predictive, Preventive and Personalised Medicine, 6
  identifier: 9789401792141
  identifier: http://dx.doi.org/10.1007/978-94-017-9214-1
  record info:
    record creation date: 140908
    record change date: 20151030031408.0
    record identifier: 978-94-017-9214-1