Case studies in rare disease small molecule discovery and development.

This review covers case studies in rare disease small molecule drug discovery with an emphasis on the use of new technologies and innovative target approaches. Case studies include examples of covalent modification, inducement of alternative splicing, stop codon readthrough, allosteric activation, and a repurposing example. The review highlights effective use of rare disease animal models, inducible pluripotent stem cells, and biomarkers.