Why rare disease needs precision medicine—and precision medicine needs rare disease
Tài liệu tham khảo
Haendel, 2020, How many rare diseases are there?, Nat. Rev. Drug Discov., 19, 77, 10.1038/d41573-019-00180-y
Miller, 2021, The diagnostic odyssey: our family’s story, Am. J. Hum. Genet., 108, 217, 10.1016/j.ajhg.2021.01.003
2011
Might, 2014, The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated, Genet. Med., 16, 736, 10.1038/gim.2014.23
Might, 2020
Owings, 2018, Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches, Hum. Mol. Genet., 27, 1055, 10.1093/hmg/ddy026
Bi, 2017, Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease, Bioorg. Med. Chem. Lett., 27, 2962, 10.1016/j.bmcl.2017.05.010
Ligezka, 2021, Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications, Ann. Neurol., 90, 887, 10.1002/ana.26245
2019, Toward A universal biomedical data translator, Clin. Transl. Sci., 12, 86, 10.1111/cts.12591
Palmer, 2021
Kim, 2019, Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease, N. Engl. J. Med., 381, 1644, 10.1056/NEJMoa1813279
Hopkins, 2002, The druggable genome, Nat. Rev. Drug Discov., 1, 727, 10.1038/nrd892
Austin, 2004, The knockout mouse project, Nat. Genet., 36, 921, 10.1038/ng0904-921
Ramoni, 2017, The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease, Am. J. Hum. Genet., 100, 185, 10.1016/j.ajhg.2017.01.006