Hereditary Retinopathies
Humphries, Pete.
Hereditary Retinopathies Progress in Development of Genetic and Molecular Therapies / [electronic resource] : by Pete Humphries, Marian M. Humphries, Lawrence C. S. Tam, G. Jane Farrar, Paul F. Kenna, Matthew Campbell, Anna-Sophia Kiang. - VII, 46 p. 8 illus., 5 illus. in color. online resource. - SpringerBriefs in Genetics, 1 2191-5563 ; . - SpringerBriefs in Genetics, 1 .
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.
9781461444992
10.1007/978-1-4614-4499-2 doi
Medicine.
Human genetics.
Gene therapy.
Ophthalmology.
Biomedicine.
Human Genetics.
Gene Therapy.
Ophthalmology.
Electronic books.
RB155-155.8 QH431
611.01816 599.935
Hereditary Retinopathies Progress in Development of Genetic and Molecular Therapies / [electronic resource] : by Pete Humphries, Marian M. Humphries, Lawrence C. S. Tam, G. Jane Farrar, Paul F. Kenna, Matthew Campbell, Anna-Sophia Kiang. - VII, 46 p. 8 illus., 5 illus. in color. online resource. - SpringerBriefs in Genetics, 1 2191-5563 ; . - SpringerBriefs in Genetics, 1 .
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.
9781461444992
10.1007/978-1-4614-4499-2 doi
Medicine.
Human genetics.
Gene therapy.
Ophthalmology.
Biomedicine.
Human Genetics.
Gene Therapy.
Ophthalmology.
Electronic books.
RB155-155.8 QH431
611.01816 599.935