Hereditary Retinopathies [electronic resource] : Progress in Development of Genetic and Molecular Therapies / by Pete Humphries, Marian M. Humphries, Lawrence C. S. Tam, G. Jane Farrar, Paul F. Kenna, Matthew Campbell, Anna-Sophia Kiang.

By:

Humphries, Pete [author.]

Contributor(s):

Series: SpringerBriefs in Genetics ; 1Publisher: New York, NY : Springer New York : Imprint: Springer, 2012Description: VII, 46 p. 8 illus., 5 illus. in color. online resourceContent type:

text

Media type:

computer

Carrier type:

online resource

ISBN:

9781461444992

Subject(s):

Genre/Form:

Electronic books.

Additional physical formats: Printed edition:: No titleDDC classification:

611.01816 23
599.935 23

LOC classification:

RB155-155.8
QH431

Online resources:

Click here to access online

Contents:

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

In: Springer eBooksSummary: 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.

Item type:

eBooks

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

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.