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Towards efficiency in rare disease research: what is distinctive and important?

Science China Life Sciences volume 60, pages 686–691 (2017)Cite this article

Abstract

Characterized by their low prevalence, rare diseases are often chronically debilitating or life threatening. Despite their low prevalence, the aggregate number of individuals suffering from a rare disease is estimated to be nearly 400 million worldwide. Over the past decades, efforts from researchers, clinicians, and pharmaceutical industries have been focused on both the diagnosis and therapy of rare diseases. However, because of the lack of data and medical records for individual rare diseases and the high cost of orphan drug development, only limited progress has been achieved. In recent years, the rapid development of next-generation sequencing (NGS)-based technologies, as well as the popularity of precision medicine has facilitated a better understanding of rare diseases and their molecular etiology. As a result, molecular subclassification can be identified within each disease more clearly, significantly improving diagnostic accuracy. However, providing appropriate care for patients with rare diseases is still an enormous challenge. In this review, we provide a brief introduction to the challenges of rare disease research and make suggestions on where and how our efforts should be focused.

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Acknowledgements

This work was supported by the National High Technology Research and Development Program of China (2015AA020108, 2015AA020104), the National Science Foundation of China (31671377), and Shanghai 111 Project (B14019).

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  1. The Center for Bioinformatics and Computational Biology, Shanghai Key Laboratory of Regulatory Biology, the Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai, 200241, China

    Jinmeng Jia & Tieliu Shi

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  1. Jinmeng Jia
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  2. Tieliu Shi
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Correspondence to Tieliu Shi.

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Jia, J., Shi, T. Towards efficiency in rare disease research: what is distinctive and important?. Sci. China Life Sci. 60, 686–691 (2017). https://doi.org/10.1007/s11427-017-9099-3

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Keywords

  • rare disease
  • rare disease diagnosis and treatment
  • data standard
  • data sharing
  • orphan drugs