Abstracts from the Human Genome Meeting 2018
Abstracts from the Human Genome Meeting 2018 is a scholarly work, published in 2018 in ''Human genomics''. The main subjects of the publication include genome, genetics, genomics, nutritional genomics, personal genomics, human genetics, computational biology, Genome Biology, human genome, and biology. Activating mutations of fibroblast growth factor receptor 3 (FGFR3) cause various skeletal dysplasias and are also associated with certain cancers.Because there are no known specific pharmaceutical inhibitors of FGFR3, authors established a cell-based protein translocation assay system that can monitor FGFR3 activity and be used for high throughput screening of complex mixtures.With this system authors identified ethanol extract from a plant as a FGFR3 inhibitor and performed bioassay-guided fractionation to identify potent active fractions.The functionality of extract and active fractions were validated in vitro in FGFR3-activated primary multiple myeloma cells.The therapeutic efficacy and safety of the active fractions were further assessed in FGFR3 ACH mice, an achondroplasia mouse model.Oral administration significantly improved growth and dwarfism-related clinical features of the FGFR3 ACH mice.the results demonstrate the applicability of this discovery approach.The identified plant extracts and active factions hold therapeutic potential for the treatment of FGFR3-activated skeletal dysplasias and cancers.