Recent advances in early-onset severe retinal degeneration: more than just basic research

Markus N Preising; Steffen Heegaard

doi:10.1016/j.molmed.2003.12.002

Recent advances in early-onset severe retinal degeneration: more than just basic research

12 Citations (Scopus)

Abstract

Successful treatment of early-onset sever retinal degeneration (EOSRD) in an animal model of the disease has provided the first proof-o-principle for retinal gene therapy of higher mammals. Currently, large sets of DNA samples are screened to identify patients with Leber's congenital amaurosis (LCA) carrying mutations in RPE65 as possible candidates for gene therapy trials. Research into EOSRD and LCA aims to identify the function of proteins involved or phenotypic changes upon mutation. These data will be used to describe the disease phenotype and identify parameters that can predict the outcome of gene therapy trials.

Original language	English
Journal	Trends in Molecular Medicine
Volume	10
Issue number	2
Pages (from-to)	51-4
Number of pages	4
ISSN	1471-4914
DOIs	https://doi.org/10.1016/j.molmed.2003.12.002
Publication status	Published - Feb 2004
Externally published	Yes

Keywords

Acyltransferases/genetics
Adaptor Proteins, Signal Transducing
Animals
Carrier Proteins/genetics
Cytoskeletal Proteins
Disease Models, Animal
Eye Proteins
Genetic Predisposition to Disease/genetics
Genetic Therapy
Guanylate Cyclase/genetics
Homeodomain Proteins/genetics
Humans
Mice
Mice, Knockout
Mutation/genetics
Optic Atrophy, Hereditary, Leber/genetics
Photoreceptor Cells, Vertebrate/metabolism
Pigment Epithelium of Eye/metabolism
Proteins/genetics
Receptors, Cell Surface/genetics
Retinal Degeneration/genetics
Trans-Activators/genetics
cis-trans-Isomerases

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10.1016/j.molmed.2003.12.002

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title = "Recent advances in early-onset severe retinal degeneration: more than just basic research",

abstract = "Successful treatment of early-onset sever retinal degeneration (EOSRD) in an animal model of the disease has provided the first proof-o-principle for retinal gene therapy of higher mammals. Currently, large sets of DNA samples are screened to identify patients with Leber's congenital amaurosis (LCA) carrying mutations in RPE65 as possible candidates for gene therapy trials. Research into EOSRD and LCA aims to identify the function of proteins involved or phenotypic changes upon mutation. These data will be used to describe the disease phenotype and identify parameters that can predict the outcome of gene therapy trials.",

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author = "Preising, \{Markus N\} and Steffen Heegaard",

year = "2004",

month = feb,

doi = "10.1016/j.molmed.2003.12.002",

language = "English",

volume = "10",

pages = "51--4",

journal = "Trends in Molecular Medicine",

issn = "1471-4914",

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T2 - more than just basic research

AU - Preising, Markus N

AU - Heegaard, Steffen

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N2 - Successful treatment of early-onset sever retinal degeneration (EOSRD) in an animal model of the disease has provided the first proof-o-principle for retinal gene therapy of higher mammals. Currently, large sets of DNA samples are screened to identify patients with Leber's congenital amaurosis (LCA) carrying mutations in RPE65 as possible candidates for gene therapy trials. Research into EOSRD and LCA aims to identify the function of proteins involved or phenotypic changes upon mutation. These data will be used to describe the disease phenotype and identify parameters that can predict the outcome of gene therapy trials.

AB - Successful treatment of early-onset sever retinal degeneration (EOSRD) in an animal model of the disease has provided the first proof-o-principle for retinal gene therapy of higher mammals. Currently, large sets of DNA samples are screened to identify patients with Leber's congenital amaurosis (LCA) carrying mutations in RPE65 as possible candidates for gene therapy trials. Research into EOSRD and LCA aims to identify the function of proteins involved or phenotypic changes upon mutation. These data will be used to describe the disease phenotype and identify parameters that can predict the outcome of gene therapy trials.

KW - Acyltransferases/genetics

KW - Adaptor Proteins, Signal Transducing

KW - Animals

KW - Carrier Proteins/genetics

KW - Cytoskeletal Proteins

KW - Disease Models, Animal

KW - Eye Proteins

KW - Genetic Predisposition to Disease/genetics

KW - Genetic Therapy

KW - Guanylate Cyclase/genetics

KW - Homeodomain Proteins/genetics

KW - Humans

KW - Mice

KW - Mice, Knockout

KW - Mutation/genetics

KW - Optic Atrophy, Hereditary, Leber/genetics

KW - Photoreceptor Cells, Vertebrate/metabolism

KW - Pigment Epithelium of Eye/metabolism

KW - Proteins/genetics

KW - Receptors, Cell Surface/genetics

KW - Retinal Degeneration/genetics

KW - Trans-Activators/genetics

KW - cis-trans-Isomerases

UR - https://www.scopus.com/pages/publications/1142309835

U2 - 10.1016/j.molmed.2003.12.002

DO - 10.1016/j.molmed.2003.12.002

M3 - Review

C2 - 15106616

SN - 1471-4914

VL - 10

SP - 51

EP - 54

JO - Trends in Molecular Medicine

JF - Trends in Molecular Medicine

IS - 2

ER -

Recent advances in early-onset severe retinal degeneration: more than just basic research

Abstract

Keywords

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