Humphries / Tam / Farrar Hereditary Retinopathies

Progress in Development of Genetic and Molecular Therapies
1. Auflage 2012
ISBN: 978-1-4614-4499-2
Verlag: Springer US
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, Band 1, 46 Seiten, eBook

Reihe: SpringerBriefs in Genetics

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.

Zielgruppe

Research

Autoren/Hrsg.

Humphries, Pete

Humphries, Marian M.

Humphries, Marian

Tam, Lawrence C. S.

Farrar, G. Jane

Kenna, Paul F.

Campbell, Matthew

Campbel, Matthew

Kiang, Anna-Sophia

Inhaltsverzeichnis

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