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.
The Data Mining/ Repurposing Task Force Steering committee exists of the following people:
- Benoît Deprez, APTEEUS, France
- Peter Bram ’t Hoen, LUMC, The Netherlands
- Caroline Kant, EspeRare, Switzerland
- Frédéric Marin, GMP-Orphan, France
- Madhu Natarajan, Shire, USA
- Jordi Quintana, Plateforma Drug Discovery, Spain
- Noel Southall, NIH/NCATS, USA
Together with the Scientific Secretariat, the Task Force is creating a draft document for debate on DMR matters. In due time, this will be open for the community at large for comments and suggestions.
Plans and timeline
- Late 2015: Preparation of a background draft by the Scientific Secretariat on Data Mining and Repurposing
- Early 2016: First conference call of the Steering Committee of the Task Force
- Mid-Late 2016: Workshop between experts in the field to discuss between the different stakeholders on data mining and repurposing
Comments and suggestions
To submit your comments and suggestions on this Task Force or the draft document, please email firstname.lastname@example.org.