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Pediatric Biomedical Informatics pp 313–338Cite as

Bioinformatics and Orphan Diseases

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Part of the book series: Translational Bioinformatics ((TRBIO,volume 10))

Abstract

In general, a rare or orphan disease is any disease that affects a small percentage of the population. Since a majority of the known orphan diseases are genetic, they are present throughout the life of affected individuals. Many of the orphan diseases appear early in life and approximately 30 % of children with orphan diseases die before the age of 5. Further, a large majority of these diseases lack effective treatments. While most of genes and pathways underlying orphan diseases remain obscure, technological advances and innovative informatics approaches are expected to accelerate the rate of identification of underlying causal mutations and therapeutic discovery. Recent technological advances in DNA sequencing for instance, can aid in identifying genes associated with orphan diseases of previously unknown etiology using DNA from as few as 2–4 patients. Likewise, advanced computational statistical techniques permit integration and mining of omics data from orphan disease patients with high throughput “signatures” representing cellular responses to perturbing agents to identify therapeutic candidates for orphan diseases. In this chapter, we review some of the current bioinformatic analytical options available for orphan disease and drug research including computational approaches for candidate gene prioritization and high throughput compound screening to enable therapeutic discovery. We also discuss strategies and present examples and case studies of common drugs being repositioned for treatment of orphan diseases.

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Authors and Affiliations

  1. Division of Biomedical Informatics, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Ave. – MLC 7024, Cincinnati, OH, 45229, USA

    Anil G. Jegga DVM, MS

  2. Department of Pediatrics, University of Cincinnati College of Medicine, 3333 Burnet Ave. – MLC 7024, Cincinnati, OH, 45229, USA

    Anil G. Jegga DVM, MS

  3. Department of Computer Science, University of Cincinnati College of Engineering, 3333 Burnet Ave. – MLC 7024, Cincinnati, OH, USA

    Anil G. Jegga DVM, MS

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  1. Children's Hospital Research Foundation, Cincinnati, Ohio, USA

    John J. Hutton

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Jegga, A.G. (2016). Bioinformatics and Orphan Diseases. In: Hutton, J. (eds) Pediatric Biomedical Informatics. Translational Bioinformatics, vol 10. Springer, Singapore. https://doi.org/10.1007/978-981-10-1104-7_16

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