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The Importance of Case Reports in Advancing Scientific Knowledge of Rare Diseases

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Rare Diseases Epidemiology

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 686))

Abstract

Case reports are defined as the scientific documentation of a single clinical observation and have a time-honored and rich tradition in medicine and scientific publication. Case reports represent a relevant, timely, and important study design in advancing medical scientific knowledge especially of rare diseases. While there are clear limitations to the methodology of case studies in determination of treatment and establishment of new tests, the observation of a single patient can add to our understanding of etiology, pathogenesis, natural history, and treatment of particularly rare diseases, and to the training of potential junior investigators. In recent years this class of scientific publication has come under scrutiny and disfavor among some in the medical scientific publication community and case studies are frequently relegated to the lowest rung of the hierarchy of study design. In this chapter the author will review and summarize the debate around the scientific publication of case reports in the context of the study of rare diseases and will present a taxonomy that ideally will encourage further dialogue on the topic. Future research on the importance of case reports in advancing knowledge of rare diseases is recommended.

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Acknowledgements

The author expresses appreciation to Drs Leslie Biesecker and John Opitz for the many fruitful discussions of this topic and to Dr Edward Clark for his gracious support of the time in the summer of 2007 to study this theme in detail. The author also appreciates the administrative expertise provided by Feliz Martinez and Meg Weist, both of the American Journal of Medical Genetics editorial office, in preparation for the research for this and related work on case reports. Lastly the author is grateful to Kevin Jeannette and Colette Bean of Wiley-Blackwell, who created Fig 5.1 .

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Authors and Affiliations

  1. Department of Pediatrics, The University of Utah, Salt Lake City, UT, 84108, USA

    John C. Carey

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  1. John C. Carey
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Correspondence to John C. Carey .

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Editors and Affiliations

  1. , Instituto de Investigaciñon en Enfermeda, Instituto de Salud Carlos III, Monforte de Lemos 5, Madrid, 28029, Spain

    Manuel Posada de la Paz

  2. , Office of Rare Diseases Research, National Institutes of Health, Executive Boulevard 6100, Bethesda, 20892-7518, USA

    Stephen C. Groft

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Carey, J.C. (2010). The Importance of Case Reports in Advancing Scientific Knowledge of Rare Diseases. In: Posada de la Paz, M., Groft, S. (eds) Rare Diseases Epidemiology. Advances in Experimental Medicine and Biology, vol 686. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9485-8_5

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