Computational drug repositioning for rare diseases in the era of precision medicine

Research output: Contribution to journalArticlepeer-review


  • Brian Delavan
  • Ruili Huang
  • Wenjun Bao
  • Weida Tong
  • Zhichao Liu

Colleges, School and Institutes

External organisations

  • University of Arkansas at Little Rock
  • National Center for Toxicological Research, US Food and Drug Administration
  • Institute of Tribology, Hefei University of Technology, Hefei 230009, PR China
  • SAS Institute Inc., Cary, NC, USA
  • National Center for Advancing Translational Sciences, National Institutes of Health, Rockville, Maryland 20850, United States


There are tremendous unmet needs and unprecedented opportunities in drug development for rare diseases. Advances in emerging techniques such as next generation sequencing has changed the landscape of research in rare diseases, exemplified by our increasing knowledge of the genetic origins of disease. In silico drug repositioning is a promising approach and has been successfully applied to the development of treatments for diseases. The underlying genetic nature of rare diseases influences the treatment responses of different genetic mutation carriers, which is an important component of precision medicine. However, how to utilize this knowledge and effectively conduct and implement in silico drug repositioning approaches for rare disease therapies is still an open question. In this review, we will focus on the means of utilizing accumulated genomic data for accelerating and facilitating drug repositioning for the treatment of rare diseases. First, we summarize the current genome landscape of rare diseases. Second, we propose several promising bioinformatics approaches and pipelines for computational drug repositioning for rare diseases. Finally, we discuss recent regulatory incentives and other enablers in rare disease drug development and outline the remaining challenge.


Original languageEnglish
Pages (from-to)382-394
Number of pages12
JournalDrug Discovery Today
Issue number2
Early online date18 Oct 2017
Publication statusPublished - 1 Feb 2018