Hereditary Retinopathies - Progress in Development of Genetic and Molecular Therapies

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.

List of contents

Preface.- Introduction.- Gene-based Medicines directly targeting genetic defects and molecular pathologies common to multiple forms of disease.- Molecular Medicines.

Summary

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.

Product details

• Authors: Matthew Campbell, G. Jane Farrar, Marian Humphries, Marian M Humphries, Marian M. Humphries, Pet Humphries, Pete Humphries, Paul F. Kenna, Anna-Sophia Kiang, Lawrence Tam, Lawrence C. Tam, Lawrence C. S. Tam
• Publisher: Springer, Berlin
• Languages: English
• Product format: Paperback / Softback
• Released: 11.05.2012
• EAN: 9781461444985
• ISBN: 978-1-4614-4498-5
• No. of pages: 46
• Illustrations: VII, 46 p. 8 illus., 5 illus. in color.
• Series: SpringerBriefs in Genetics; SpringerBriefs in Genetics
• Subject: Natural sciences, medicine, IT, technology > Medicine > Clinical medicine