9781621820178

Retinal Disorders: Genetic Approaches to Diagnosis and Treatment

by ; ;
  • ISBN13:

    9781621820178

  • ISBN10:

    1621820173

  • Edition: 1st
  • Format: Hardcover
  • Copyright: 2014-12-31
  • Publisher: Cold Spring Harbor Laboratory Press

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Summary

The retina is a layer of neural tissue that lines the inner eye and captures visual stimuli. Hereditary, physiologic, or environmental factors can lead to various retinal disorders and may cause blindness. The recent application of molecular genetic techniques to retinal disorders has led to remarkable advances in the understanding, diagnosis, and treatment of these conditions.

Written and edited by experts in the field, this collection from Cold Spring Harbor Perspectives in Medicine reviews recent work on retinal diseases, describing their genetic and molecular basis, their clinical characteristics, and strategies to diagnose and treat them. The contributors emphasize how genetic approaches are currently driving progress in the field. They discuss the genetic mutations and modifiers that underlie disease development and progression, the gene expression patterns that characterize them, and how this information is being used for medical applications. In particular, the authors describe impressive advances in gene therapy treatments for retinal diseases, some of which have led to clinical success.

Common retinal diseases such as age-related macular degeneration, glaucoma, and retinitis pigmentosa are covered, as are rare disorders such as Leber congenital amaurosis and Usher syndrome. This volume will be a useful reference for geneticists, neurobiologists, and ophthalmologists who must understand and manage disorders of the retina, as well as anyone working to develop gene therapies for other medical conditions.

Table of Contents


A. Genetics of Inherited Retinal Degenerations

1. Clinical characteristics and current therapies for inherited retinal degenerations
Jose Sahel, Katia Marzova, & Isabelle Audo

2. The current status of disease gene discovery: inherited retinal degenerations macular dystrophies and clinical genetic testing
Steve Daiger

3. Genomic approaches for the discovery of inherited retinal degeneration genes
Frans Cremers

4. Genetic modifiers, and oligogenic inheritance
Nico Katsanis

5. Gene expression/transcriptomes for enhancing inherited retinal degeneration genetics
Mike Farkas

6. Stem cells as tools for studying the genetics of inherited retinal degenerations
Budd Tucker

B. Genetics of AMD

7. Clinical characteristics and current treatment of AMD
Yoshihiro Yonekawa & Ivana Kim

8. Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in AMD
Jonathan Haines & Jessica Cooke Bailey

9. Components of drusen
John Crabb

10. Highly penetrant alleles
Anneke den Hollander & Eiko de Jong

11. Differential gene expression in AMD
Margaret DeAngelis

12. Clinical applications of AMD genetics
Emily Chew & John Paul SanGiovanni

C. Glaucoma

13. Clinical characteristics and current treatment of glaucoma
Lou Pasquale & Laura Cohen

14. Common and rare genetic risk factors for glaucoma
Janey Wiggs

15. Differential gene expression in glaucoma
Tatjana Jakobs

16. Inflammation in glaucoma
Gareth Howell & Ileana Soto Reyes

17. Clinical applications of genetics for glaucoma and optic neuropathy.
Janey Wiggs

D. Gene/Genetic Therapies for Inherited Retinal Disorders

A. Gene therapy trials

18. The status of RPE65 gene therapy trials: efficacy and long-term safety.
Jean Bennett

19. Gene therapy for choroideremia - AAV
Rob MacLaren & Alun Barnard

20. Gene therapy for retinal degeneration due to mutations in ABCA4
Rando Allikmets

21. Gene therapy for the retinal degeneration of Usher Syndrome due to mutations in MYO7A
David Williams

22. Genetic testing & genetic discovery of retinal degenerations genes
Rob Koenekoop & Naveen Mysore

23. Anti-VEGF gene therapy
Sam Wadsworth, Peter Pechan, & Abraham Scaria

B. Gene Therapies in Pre-Clinical Studies

24. Gene therapy for achromatopsia
Mathias Seeliger, Martin Biel, Regine Muehlfriedel, Mayouki Tanimot, Stylianos Michalakis

25. Leber congenital amaurosis due to mutations in GUCY2D
Shannon Boye

26. Gene therapy for retinoschisis
Paul Sieving, Lisa Wie, and Ronald Bush

27. Retinitis pigmentosa due to mutations in PRPH2 - nanoparticles
Muna Naash & Shannon Conley

28. Leber congenital amaurosis due to mutations in RPGRIP1
Tiansen Li

29. Gene augmentation for X-linked RP due to mutations in RPGR
William Beltran

30. Gene augmentation for adRP due to mutations in RHO
Al Lewin

31. Curing color blindness - mice and non-human primates
Jay Neitz & Maureen Nietz

C. Future Developments/Horizons in Gene Therapy

32. Genetic and small molecule enhancement of retinal sensitivity

33. Gene therapy using stem cells
Budd Tucker

34. What's next in retinal gene therapy?
Luk Vandenberghe

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