Bock / Chader / Goode Retinal Dystrophies

Functional Genomics to Gene Therapy
1. Auflage 2004
ISBN: 978-0-470-09263-7
Verlag: John Wiley & Sons
Format: PDF
Kopierschutz: Adobe DRM (»Systemvoraussetzungen)

E-Book, Englisch, 226 Seiten, E-Book

Reihe: Novartis Foundation Symposium

Retinal dystrophies are the major causes of incurable blindness inthe Western world. Our insight into their aetiology hasimproved remarkably over the past decade and a number of key geneshave been identified. Together with a more detailed understandingof disease processes, this knowledge is stimulating new approachesto therapeutic strategies involving gene therapy, growth factorsand retinal cell transplantation.
Molecular genetic studies have provided detailed information onthe pathogenesis of retinal dystrophies. An important proof ofprinciple that gene therapy holds great promise for the treatmentof these conditions was demonstrated in the rds mouse:introduction of a functional copy of the peripherin genesubretinally resulted in complete rescue of rod outer segmentstructure. Novel approaches are being developed based on themanipulation of biochemical pathways that previously were notconsidered relevant to these diseases. For example, renewedinterest in retinal dystrophy pathogenesis led to the successfuluse of high dose vitamin A treatment in Sorsby fundusdystrophy.
This important new book covers all aspects of retinaldystrophies from the molecular and developmental biology of thesedisorders to possible therapeutic approaches, with specialreference to gene therapy. Specific chapters deal with themolecular genetics of gene therapies, clinical genetic studies,molecular and cellular mechanisms of the development of thedisease, functional genomics of retinal diseases, animal models ofretinal dystrophies, and finally with studies on gene therapeuticapproaches to correcting the disorder. With contributions by manyof the leading researchers worldwide, this book is likely to be animportant milestone in this rapidly developing field.

Autoren/Hrsg.

Bock, Gregory R.

Chader, Gerry

Goode, Jamie A.

Inhaltsverzeichnis

Chair's Introduction (Shomi S Battacharya).
Gene therapy of retinal dystrophies: Achievements, challengesand prospects (Dean Bok).
Identifying retinal disease genes: how far have we come, how fardo we have to go? (Stephen P Daiger).
Dominant cone and cone-rod dystrophies: functional analysis ofmutations in regGC1 and GCAP1 (David Hunt, Susan E Wilkie,Richard Newbold, Evelyne Deery, Martin J Warren, Shomi SBattacharya, and Kang Zhang).
Isotretinoin treatment inhibits lipofuscin accumulation in amouse 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 BHoyng).
What should a clinician know to be prepared for the advent oftreatment of retinal dystrophies? (Alan C Bird).
Role of subunit assembly in autosomal dominant retinitispigmentosa 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, secreteddfactors promoting cone viability (Thierry Leveillard, SaddekMohand-Said, Anne-Claire Fintz, George Lambrou, and Jose-AlainSahel).
Studies on retinal and retinal pigment epithelial geneexpression (Itay Chowers, Noriko Esumi, Peter Campochiaro, andDonald J Zack).
From disease genes to cellular pathways: a progress report (JYu, A J Mears, S Yoshida, R Farjo, T A Carter, D Ghosh, A Hero, CBarlow, and A Swaroop).
Prospects for gene therapy (Robin R Ali).
Range of retinal diseases potentially treatable by AAV-vectoredgene therapy (William S Hauswirth, Quihong Li, Brian Raisler,Adrian M Timmers, Kenneth I Berns, John G Flannery, Matthew MLaVail, and Alfred S Lewin).
Gene therapy for Leber congenital amaurosis (JeanBennett).
Index of Contributors.
Subject Index.