Retinal Dystrophies (PDF)
Functional Genomics to Gene Therapy
(Sprache: Englisch)
Retinal dystrophies are the major causes of incurable blindness in
the Western world. Our insight into their aetiology has
improved remarkably over the past decade and a number of key genes
have been identified. Together with a more detailed...
the Western world. Our insight into their aetiology has
improved remarkably over the past decade and a number of key genes
have been identified. Together with a more detailed...
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Retinal dystrophies are the major causes of incurable blindness in
the Western world. Our insight into their aetiology has
improved remarkably over the past decade and a number of key genes
have been identified. Together with a more detailed understanding
of disease processes, this knowledge is stimulating new approaches
to therapeutic strategies involving gene therapy, growth factors
and retinal cell transplantation.
Molecular genetic studies have provided detailed information on
the pathogenesis of retinal dystrophies. An important proof of
principle that gene therapy holds great promise for the treatment
of these conditions was demonstrated in the rds mouse:
introduction of a functional copy of the peripherin gene
subretinally resulted in complete rescue of rod outer segment
structure. Novel approaches are being developed based on the
manipulation of biochemical pathways that previously were not
considered relevant to these diseases. For example, renewed
interest in retinal dystrophy pathogenesis led to the successful
use of high dose vitamin A treatment in Sorsby fundus
dystrophy.
This important new book covers all aspects of retinal
dystrophies from the molecular and developmental biology of these
disorders to possible therapeutic approaches, with special
reference to gene therapy. Specific chapters deal with the
molecular genetics of gene therapies, clinical genetic studies,
molecular and cellular mechanisms of the development of the
disease, functional genomics of retinal diseases, animal models of
retinal dystrophies, and finally with studies on gene therapeutic
approaches to correcting the disorder. With contributions by many
of the leading researchers worldwide, this book is likely to be an
important milestone in this rapidly developing field.
the Western world. Our insight into their aetiology has
improved remarkably over the past decade and a number of key genes
have been identified. Together with a more detailed understanding
of disease processes, this knowledge is stimulating new approaches
to therapeutic strategies involving gene therapy, growth factors
and retinal cell transplantation.
Molecular genetic studies have provided detailed information on
the pathogenesis of retinal dystrophies. An important proof of
principle that gene therapy holds great promise for the treatment
of these conditions was demonstrated in the rds mouse:
introduction of a functional copy of the peripherin gene
subretinally resulted in complete rescue of rod outer segment
structure. Novel approaches are being developed based on the
manipulation of biochemical pathways that previously were not
considered relevant to these diseases. For example, renewed
interest in retinal dystrophy pathogenesis led to the successful
use of high dose vitamin A treatment in Sorsby fundus
dystrophy.
This important new book covers all aspects of retinal
dystrophies from the molecular and developmental biology of these
disorders to possible therapeutic approaches, with special
reference to gene therapy. Specific chapters deal with the
molecular genetics of gene therapies, clinical genetic studies,
molecular and cellular mechanisms of the development of the
disease, functional genomics of retinal diseases, animal models of
retinal dystrophies, and finally with studies on gene therapeutic
approaches to correcting the disorder. With contributions by many
of the leading researchers worldwide, this book is likely to be an
important milestone in this rapidly developing field.
Inhaltsverzeichnis zu „Retinal Dystrophies (PDF)“
Chair's Introduction (Shomi S Battacharya). Gene therapy of retinal dystrophies: Achievements, challenges and prospects (Dean Bok). Identifying retinal disease genes: how far have we come, how far do we have to go? (Stephen P Daiger). Dominant cone and cone-rod dystrophies: functional analysis of mutations in regGC1 and GCAP1 (David Hunt, Susan E Wilkie, Richard Newbold, Evelyne Deery, Martin J Warren, Shomi S Battacharya, and Kang Zhang). Isotretinoin treatment inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration (Roxana A Radu, Nathan L Mata, Steven Nusinowitz, Xinran Liu, and Gabriel H Travis). The expanding roles of ABCA4 and CRB1 in inherited blindness (F P M Cremers, A Maugeri, A I den Hollander, and C B Hoyng). What should a clinician know to be prepared for the advent of treatment of retinal dystrophies? (Alan C Bird). Role of subunit assembly in autosomal dominant retinitis pigmentosa link ed to mutations in perpherin 2 (Robert S Molday, Laurie L Molday, and Christopher J R Loewen). The search for rod-dependent cone viability factors, secretedd factors promoting cone viability (Thierry Leveillard, Saddek Mohand-Said, Anne-Claire Fintz, George Lambrou, and Jose-Alain Sahel). Studies on retinal and retinal pigment epithelial gene expression (Itay Chowers, Noriko Esumi, Peter Campochiaro, and Donald J Zack). From disease genes to cellular pathways: a progress report (J Yu, A J Mears, S Yoshida, R Farjo, T A Carter, D Ghosh, A Hero, C Barlow, and A Swaroop). Prospects for gene therapy (Robin R Ali). Range of retinal diseases potentially treatable by AAV-vectored gene therapy (William S Hauswirth, Quihong Li, Brian Raisler, Adrian M Timmers, Kenneth I Berns, John G Flannery, Matthew M LaVail, and Alfred S Lewin). Gene therapy for Leber congenital amaurosis (Jean Bennett). Index of Contributors. Subject Index.
Autoren-Porträt
The Novartis Foundation is an international scientific and educational charity which promotes the study and general knowledge of science and in particular encourages international co-operation in scientific research.
Bibliographische Angaben
- 2004, 1. Auflage, 226 Seiten, Englisch
- Herausgegeben: Gregory R. Bock, Gerry Chader, Jamie A. Goode
- Verlag: John Wiley & Sons
- ISBN-10: 0470092637
- ISBN-13: 9780470092637
- Erscheinungsdatum: 18.02.2004
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