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.
The following have contributed to this page: Dr Sean Ekins