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  • Book
  • © 2012

Hereditary Retinopathies

Progress in Development of Genetic and Molecular Therapies

Authors:

  1. Pete Humphries

    1. Trinity College, Institute of Genetics, University of Dublin, Dublin, Ireland

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  2. Marian M. Humphries

    1. Trinity College, Institute of Genetics, University of Dublin, Dublin, Ireland

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  3. Lawrence C. S. Tam

    1. Trinity College, Institute of Genetics, University of Dublin, Dublin, Ireland

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  4. G. Jane Farrar

    1. Trinity College, Institute of Genetics, University of Dublin, Dublin, Ireland

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  5. Paul F. Kenna

    1. Trinity College, Institute of Genetics, University of Dublin, Dublin, Ireland

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  6. Matthew Campbell

    1. Trinity College, Institute of Genetics, University of Dublin, Dublin, Ireland

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  7. Anna-Sophia Kiang

    1. Trinity College, Institute of Genetics, University of Dublin, Dublin, Ireland

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  • Provides a snap-shot of current gene and drug-based therapies for hereditary retinal disorders
  • The authors explore emerging topics such as novel gene or drug delivery methods to the retina and retinal diseases caused by protein misfolding and aggregation
  • Describes current developments and future prospects for the application of gene therapy
  • Includes supplementary material: sn.pub/extras
  • Includes supplementary material: sn.pub/extras

Part of the book series: SpringerBriefs in Genetics (BRIEFSGENETICS, volume 1)

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Table of contents (3 chapters)

  1. Front Matter

    Pages i-vii
    PDF

  2. Introduction

    • Pete Humphries, Marian M. Humphries, Lawrence C. S. Tam, G. Jane Farrar, Paul F. Kenna, Matthew Campbell et al.
    Pages 1-10

  3. Gene-Based Medicines Targeting Genetic Defects Directly and Molecular Pathologies Common to Multiple Forms of Disease

    • Pete Humphries, Marian M. Humphries, Lawrence C. S. Tam, G. Jane Farrar, Paul F. Kenna, Matthew Campbell et al.
    Pages 11-30

  4. Molecular Medicines

    • Pete Humphries, Marian M. Humphries, Lawrence C. S. Tam, G. Jane Farrar, Paul F. Kenna, Matthew Campbell et al.
    Pages 31-46
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About this book

The hereditary retinopathy, retinitis pigmentosa (RP), which affects 1 in 3,500 people worldwide, is the most common cause of registered visual handicap among those of the working age in developed countries. RP is a highly variable disorder where patients may develop symptomatic visual loss in early childhood, while others may remain asymptomatic until mid-adulthood. Most cases of RP segregate in autosomal dominant, recessive or X-linked recessive modes, with approximately 41 genes being implicated in disease pathology to date (RetNet). The extensive genetic heterogeneity associated with autosomal dominant RP (adRP) is an undisputed hindrance to the development of genetically based therapeutics.
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Keywords

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Authors and Affiliations

  • Trinity College, Institute of Genetics, University of Dublin, Dublin, Ireland

    Pete Humphries, Marian M. Humphries, Lawrence C. S. Tam, G. Jane Farrar, Paul F. Kenna, Matthew Campbell, Anna-Sophia Kiang

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Bibliographic Information

  • Book Title: Hereditary Retinopathies

  • Book Subtitle: Progress in Development of Genetic and Molecular Therapies

  • Authors: Pete Humphries, Marian M. Humphries, Lawrence C. S. Tam, G. Jane Farrar, Paul F. Kenna, Matthew Campbell, Anna-Sophia Kiang

  • Series Title: SpringerBriefs in Genetics

  • DOI: https://doi.org/10.1007/978-1-4614-4499-2

  • Publisher: Springer New York, NY

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: The Author(s) 2012

  • Softcover ISBN: 978-1-4614-4498-5Published: 04 August 2012

  • eBook ISBN: 978-1-4614-4499-2Published: 07 August 2012

  • Series ISSN: 2191-5563

  • Series E-ISSN: 2191-5571

  • Edition Number: 1

  • Number of Pages: VII, 46

  • Number of Illustrations: 3 b/w illustrations, 5 illustrations in colour

  • Topics: Human Genetics, Gene Therapy, Ophthalmology

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Buy it now

eBook USD 39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

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