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Identification and Analysis of Inherited Retinal Disease Genes

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Retinal Degeneration

Part of the book series: Methods in Molecular Biology ((MIMB,volume 935))

Abstract

Inherited retinal diseases display a very high degree of clinical and genetic heterogeneity, which poses challenges in identifying the underlying defects in known genes and in identifying novel retinal disease genes. Here, we outline the state-of-the-art techniques to find the causative DNA variants, with special attention for next-generation sequencing which can combine molecular diagnostics and retinal disease gene identification.

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Acknowledgments

This work was supported by the European Community’s Seventh Framework Program FP7/2007-2013, grant nr. 223143- TECHGENE, and by the Netherlands Organization for Health Research and Development, ZonMW grant 912-09-047.

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Authors and Affiliations

  1. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    Kornelia Neveling, Anneke I. den Hollander, Frans P. M. Cremers & Rob W. J. Collin

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  1. Kornelia Neveling
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  2. Anneke I. den Hollander
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  3. Frans P. M. Cremers
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  4. Rob W. J. Collin
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Correspondence to Rob W. J. Collin .

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Editors and Affiliations

  1. , Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, Regensburg, 93053, Germany

    Bernhard H.F. Weber

  2. INSTITUTE OF HUMAN GENETICS, INSTITUTE OF HUMAN GENETICS, FRANZ-JOSEF-STRAUSS-ALLEE 11, 93053 REGENSBURG, Germany

    THOMAS LANGMANN

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Neveling, K., den Hollander, A.I., Cremers, F.P.M., Collin, R.W.J. (2012). Identification and Analysis of Inherited Retinal Disease Genes. In: Weber, B., LANGMANN, T. (eds) Retinal Degeneration. Methods in Molecular Biology, vol 935. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-080-9_1

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  • DOI: https://doi.org/10.1007/978-1-62703-080-9_1

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