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Hereditary Retinopathies

Progress in Development of Genetic and Molecular Therapies

  • Book
  • © 2012

Overview

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
    Download chapter 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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Keywords

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.

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

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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