From Disease Genes to Cellular Pathways: A Progress Report

  1. Gregory Bock Organizer,
  2. Gerry Chader Organizer and
  3. Jamie Goode
  1. J. Yu1,
  2. A. J. Mears2,
  3. S. Yoshida2,
  4. R. Farjo2,
  5. T. A. Carter3,
  6. D. Ghosh4,
  7. A. Hero5,
  8. C. Barlow3 and
  9. A. Swaroop6,*

Published Online: 7 OCT 2008

DOI: 10.1002/0470092645.ch11

Retinal Dystrophies: Functional Genomics to Gene Therapy: Novartis Foundation Symposium 255

Retinal Dystrophies: Functional Genomics to Gene Therapy: Novartis Foundation Symposium 255

How to Cite

Yu, J., Mears, A. J., Yoshida, S., Farjo, R., Carter, T. A., Ghosh, D., Hero, A., Barlow, C. and Swaroop, A. (2003) From Disease Genes to Cellular Pathways: A Progress Report, in Retinal Dystrophies: Functional Genomics to Gene Therapy: Novartis Foundation Symposium 255 (eds G. Bock, G. Chader and J. Goode), John Wiley & Sons, Ltd, Chichester, UK. doi: 10.1002/0470092645.ch11

Author Information

  1. 1

    Departments of Ophthalmology and Visual Sciences, Biomedical Engineering, University of Michigan, Ann Arbor, MI 48105-0714, USA

  2. 2

    Departments of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105-0714, USA

  3. 3

    The Salk Institute for Biological Studies, Laboratory of Genetics, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA

  4. 4

    Department of Biostatistics, University of Michigan, Ann Arbor, MI 48105-0714, USA

  5. 5

    Departments of Biomedical Engineering, Statistics, University of Michigan, Ann Arbor, MI 48105-0714, USA

  6. 6

    Departments of Ophthalmology and Visual Sciences, Human Genetics, University of Michigan, Ann Arbor, MI 48105-0714, USA

*Ophthalmology, University of MI-Kellogg Eye Center, 1000 Wall Street Room 539, Ann Arbor, MI 48105-0714, USA

Publication History

  1. Published Online: 7 OCT 2008
  2. Published Print: 9 DEC 2003

Book Series:

  1. Novartis Foundation Symposia

Book Series Editors:

  1. Novartis Foundation

ISBN Information

Print ISBN: 9780470853573

Online ISBN: 9780470092644

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Summary

Mutations in a large number of retinal and retinal pigment epithelium (RPE) expressed genes can lead to the degeneration of photoreceptors and consequently the loss of vision. The genetic and phenotypic heterogeneity of retinal dystrophies poses a complex problem with respect to rational development of therapeutic strategies. Delineation of physiological functions of disease genes and identification of pathways that lead to disease pathogenesis represent essential goals towards developing a systematic and global approach to gene-based treatments. We are interested in identifying cellular pathways that are involved in photoreceptor differentiation, function and degeneration. We are, therefore, generating comprehensive gene expression profiles of retina and RPE of humans and mice using both cDNA- and oligonucleotide-based (Affymetrix) microarrays. Because of the under-representation of retinal/ RPE genes in the public databases, we have constructed several unamplified cDNA libraries and produced almost twenty thousand expressed sequence tags (ESTs) that are being printed onto glass slides (‘I-Gene’ microarrays). In this presentation, we will report the microarray analysis of the rodless (and cone-enhanced) retina from the Nrlknockout mouse as a paradigm to initiate the identification of cellular pathways involved in photoreceptor differentiation and function.