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 | Orphanet Journal of Rare Diseases | Full Text

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 | Orphanet Journal of Rare Diseases | Full Text

Orphanet Journal of Rare Diseases

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

• Noel T Southall, 
• Madhusudan Natarajan, 
• Lilian Pek Lian Lau, 
• Anneliene Hechtelt Jonker, 
• Benoît Deprez, 
• Tim Guilliams, 
• Lawrence Hunter, 
• Carin MA Rademaker, 
• Virginie Hivert, 
• Diego Ardigò & 
• on behalf of the IRDiRC Data Mining and Repurposing Task Force

Orphanet Journal of Rare Diseases volume 14, Article number: 225 (2019) | Download Citation

Article metrics

• 12 Accesses

Abstract

The number of available therapies for rare diseases remains low, as fewer than 6% of rare diseases have an approved treatment option. The International Rare Diseases Research Consortium (IRDiRC) set up the multi-stakeholder Data Mining and Repurposing (DMR) Task Force to examine the potential of applying biomedical data mining strategies to identify new opportunities to use existing pharmaceutical compounds in new ways and to accelerate the pace of drug development for rare disease patients. In reviewing past successes of data mining for drug repurposing, and planning for future biomedical research capacity, the DMR Task Force identified four strategic infrastructure investment areas to focus on in order to accelerate rare disease research productivity and drug development: (1) improving the capture and sharing of self-reported patient data, (2) better integration of existing research data, (3) increasing experimental testing capacity, and (4) sharing of rare disease research and development expertise. Additionally, the DMR Task Force also recommended a number of strategies to increase data mining and repurposing opportunities for rare diseases research as well as the development of individualized and precision medicine strategies.