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Emerging Technologies for Gene Identification in Rare Diseases

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Rare Diseases

Part of the book series: Advances in Predictive, Preventive and Personalised Medicine ((APPPM,volume 6))

Abstract

Rare diseases are a heavy burden on affected individuals and, collectively, on society. Since most rare diseases have a genetic cause, the identification of disease-causing genes is the first step in the unravelling of pathogenic mechanisms and in the search for specific therapeutic options. New technologies based on Next Generation Sequencing (NGS) greatly facilitate the discovery of disease-causing genes, especially when coupled with efficient data-analysis strategy. Additionally, NGS is slowly entering the clinical arena as a diagnostic tool for rare diseases, drastically reducing the time required to arrive at a correct diagnosis.

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Authors and Affiliations

  1. Institute of Human Genetics, University Medical Faculty, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany

    Filippo Beleggia & Bernd Wollnik

  2. Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany

    Filippo Beleggia & Bernd Wollnik

  3. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany

    Filippo Beleggia & Bernd Wollnik

Authors
  1. Filippo Beleggia
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  2. Bernd Wollnik
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Correspondence to Bernd Wollnik .

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Editors and Affiliations

  1. Faculty of Medicine, Medical Biology, Hacettepe University, Ankara, Turkey

    Meral Özgüç

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Beleggia, F., Wollnik, B. (2015). Emerging Technologies for Gene Identification in Rare Diseases. In: Özgüç, M. (eds) Rare Diseases. Advances in Predictive, Preventive and Personalised Medicine, vol 6. Springer, Dordrecht. https://doi.org/10.1007/978-94-017-9214-1_3

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  • DOI: https://doi.org/10.1007/978-94-017-9214-1_3

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