Data Mining and Repurposing


Rare diseases research has reached a tipping point, with the confluence of scientific and technological developments that, if appropriately harnessed, could lead to key breakthroughs and treatments for this set of devastating disorders. In academia, advances in genetics analyses and disease mechanisms have allowed scientific understanding to mature, but the genomic revolution has, thus far, seldom translated directly into the development of new therapeutic strategies although biomedical knowledge has grown at a high speed.

Initiatives, both academic and commercial, have proliferated recently, targeted at making the most of the existing data and knowledge to identify new therapeutic targets and to repurpose drugs. Their objective is to efficiently exploit natural-language expressed biomedical knowledge to identify new therapy opportunities for rare diseases. They leverage on developments in Computational Linguistics and Graph Theory, to build a representation of knowledge which is automatically analyzed to discover hidden relations between any drug and any disease, representing possible Modes of Action for any given pharmacological compound. Their efficacy for selecting drugs as treatment options for rare diseases is already documented.


IRDiRC aims to stimulate and coordinate basic and clinical research, by promoting links between existing resources, fostering the molecular and clinical characterization of rare diseases and encouraging translational, preclinical and clinical research. The purpose of this Task Force is to gather the expertise at global level and identify opportunities for collaborations, especially public/private ones, to speed up the exploitation of these new discovery tools.

Steering Committee (7)

The Data Mining and Repurposing Task Force Steering committee exists of the following people:

  • Benoît Deprez – APTEEUS, France
  • Peter Bram ’t Hoen – Leiden University Medical Center, The Netherlands
  • Caroline Kant – EspeRare, Switzerland
  • Frédéric Marin – GMP-Orphan, France
  • Madhu Natarajan – Shire, USA
  • Jordi Quintana – Plateforma Drug Discovery, Spain
  • Noel Southall – National Center for Advancing Translational Sciences at NIH, USA


The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases – recommendations of the IRDiRC Data Mining and Repurposing Task Force. Click here.

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