Case studies in rare disease small molecule discovery and development |
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| Affiliation: | 1. Department of Pharmaceutical Analysis, National Institute of Pharmaceutical Education and Research (NIPER), Ahmedabad, Gujarat, India;2. Department of Medicinal Chemistry, National Institute of Pharmaceutical Education and Research (NIPER), Ahmedabad, Gujarat, India;1. Division of Human Genetics, Medical University Innsbruck, Peter-Mayr-Str. 1, 6020 Innsbruck, Austria;2. Children`s Hospital, LKH Bregenz, Austria;3. Institute of Neuropathology, University Hospital RWTH Aachen, Germany;4. Institute for Human Genetics, University of Würzburg, Germany |
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| Abstract: | 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. |
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| Keywords: | Rare disease iPSCs Small molecules Biomarkers |
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