Hereditary Retinopathies

Progress in Development of Genetic and Molecular Therapies
2012
ISBN: 978-1-4614-4498-5
Verlag: Springer

Buch, Englisch, 46 Seiten, Format (B × H): 155 mm x 235 mm, Gewicht: 102 g

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.

Tam, Lawrence C. S.

Kiang, Anna-Sophia

Farrar, G. Jane

Kenna, Paul F.

Campbell, Matthew

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Gentherapie
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Augenheilkunde, Optometrie

Inhaltsverzeichnis

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