A generalizable pre-clinical research approach for orphan disease therapy

  • Chandree L Beaulieu, Mark E Samuels, Sean Ekins, Christopher R McMaster, Aled M Edwards, Adrian R Krainer, Geoffrey G Hicks, Brendan J Frey, Kym M Boycott, Alex E MacKenzie
  • Orphanet Journal of Rare Diseases, January 2012, Springer Science + Business Media
  • DOI: 10.1186/1750-1172-7-39

Startegies for rare disease drug discovery

What is it about?

A review proposing a strategic toolbox and preclinical research pathway for inherited orphan diseases. We describe loss of function mutations, gain of function mutations and approaches for addressing each. There is some discussion of computational approaches that have been and could be used for this area.

Why is it important?

Probably the first or an early discussion of such strategies that is comprehensive. It provides comprehensive information useful for funding and patient advocacy groups as well as academic groups and start-up companies.


Dr Sean Ekins
Collaborations in Chemistry

The review is the result of a workshop meeting held in Toronto in late 2011 that brought together many different groups to discuss "treating inherited rare disorders: choosing the shortest (and most generalizable) paths to the clinic". This was a pivotal meeting for me coming weeks after meeting Jill Wood, a rare disease parent. One of those turning points for me.

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The following have contributed to this page: Dr Sean Ekins