Medicine

Antisense oligonucleotide treatment in a personal with KIF1A-associated neurological ailment

.Kaufmann, P., Pariser, A. R. &amp Austin, C. Coming from scientific revelation to therapies for rare diseasesu00e2 $" the perspective coming from the National Facility for Evolving Translational Sciencesu00e2 $" Workplace of Rare Diseases Research Study. Orphanet J. Rare Dis. Thirteen, 196 (2018 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Crooke, S. T. A phone call to arms against ultra-rare health conditions. Nat. Biotechnol. 39, 671u00e2 $ "677 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Vockley, J. et al. The evolving duty of health care geneticists in the era of genetics treatment: a seriousness to prepare. Genet. Medication. 25, 100022 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Kim, J. et al. Patient-customized oligonucleotide therapy for an unusual hereditary illness. N. Engl. J. Medication. 381, 1644u00e2 $ "1652 (2019 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Kim, J. et cetera. A framework for tailored splice-switching oligonucleotide therapy. Structure 619, 828u00e2 $ "836 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Lima, W. F. et cetera. Individual RNase H1 discriminates between understated variations in the design of the heteroduplex substrate. Mol. Pharmacol. 71, 83u00e2 $ "91 (2007 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Crooke, S. T., Baker, B. F., Crooke, R. M. &amp Liang, X.-H. Antisense modern technology: a guide as well as syllabus. Nat. Rev. Medicine Discov. Twenty, 427u00e2 $ "453 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Lee, J.-R. et al. Afresh mutations in the electric motor domain of KIF1A reason cognitive impairment, abnormal paraparesis, axonal neuropathy, and cerebellar degeneration. Hum. Mutat. 36, 69u00e2 $ "78 (2015 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Boyle, L. et cetera. Genotype and flaws in microtubule-based motility associate along with clinical seriousness in KIF1A-associated neurological problem. HGG Adv. 2, 100026 (2021 ). CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Kondo, M., Takei, Y. &amp Hirokawa, N. Motor healthy protein KIF1A is crucial for hippocampal synaptogenesis as well as learning enlargement in a developed environment. Nerve cell 73, 743u00e2 $ "757 (2012 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Guo, Y. et cetera. A rare KIF1A missense mutation boosts synaptic feature and enhances confiscation task. Front end. Genet. 11, 61 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google.com Scholaru00c2.Kaur, S. et al. Development of the phenotypic range of afresh missense variations in kinesin member of the family 1A (KIF1A). Hum. Mutat. 41, 1761u00e2 $ "1774 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google.com Scholaru00c2.Canivez, G. L. &amp McGill, R. J. Element structure of the Differential Ability Scales-Second Edition: exploratory as well as hierarchical aspect reviews with the primary subtests. Psychol. Examine. 28, 1475u00e2 $ "1488 (2016 ). Articleu00c2.PubMedu00c2.Google.com Scholaru00c2.Epstein, A. et al. Material verification of the quality of life inventoryu00e2 $" impairment. Child Care Wellness Dev. Forty five, 654u00e2 $ "659 (2019 ). Articleu00c2.PubMedu00c2.Google.com Scholaru00c2.Lek, M. et cetera. Study of protein-coding genetic variant in 60,706 human beings. Nature 536, 285u00e2 $ "291 (2016 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.IND Submissions for Individualized Antisense Oligonucleotide Drug Products for Severely Incapacitating or even Serious Conditions: Scientific Suggestions (US Food and Drug Administration, 2022) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/ind-submissions-individualized-antisense-oligonucleotide-drug-products-severely-debilitating-or-lifeIND Submissions for Customized Antisense Oligonucleotide Medicine Products: Management and also Procedural Referrals Direction for Sponsor-Investigators (US Food and Drug Administration, 2021) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/ind-submissions-individualized-antisense-oligonucleotide-drug-products-administrative-and-proceduralInvestigational New Drug Request Articles for Customized Antisense Oligonucleotide Medication Products for Drastically Devastating or Life-Threatening Ailments: Chemistry, Manufacturing, and also Controls Recommendations, Guidance for Sponsor-Investigators (US Fda, 2022) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/investigational-new-drug-application-submissions-individualized-antisense-oligonucleotide-drugNonclinical Testing of Individualized Antisense Oligonucleotide Medicine Products for Badly Incapacitating or Life-Threatening Conditions Direction for Sponsor-Investigators (United States Food and Drug Administration, 2021) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/nonclinical-testing-individualized-antisense-oligonucleotide-drug-products-severely-debilitating-or.

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