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.
General
| Imprint: |
John Wiley & Sons
|
| Country of origin: |
United States |
| Series: |
Novartis Foundation Symposia |
| Release date: |
December 2003 |
| First published: |
2004 |
| Authors: |
Novartis
|
| Dimensions: |
237 x 165 x 16mm (L x W x T) |
| Format: |
Hardcover
|
| Pages: |
226 |
| Edition: |
New |
| ISBN-13: |
978-0-470-85357-3 |
| Categories: |
Books >
Medicine >
Clinical & internal medicine >
Ophthalmology
|
| LSN: |
0-470-85357-3 |
| Barcode: |
9780470853573 |
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