.Kaufmann, P., Pariser, A. R. & Austin, C. From clinical revelation to procedures for rare diseasesu00e2 $" the view from the National Facility for Evolving Translational Sciencesu00e2 $" Office of Rare Diseases Research Study. Orphanet J. Rare Dis. 13, 196 (2018 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Crooke, S. T. A call to arms versus ultra-rare conditions. Nat. Biotechnol. 39, 671u00e2 $ "677 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Vockley, J. et cetera. The growing job of health care geneticists in the period of genetics therapy: a seriousness to prep. Genet. Medication. 25, 100022 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Kim, J. et cetera. Patient-customized oligonucleotide treatment for a rare genetic illness. N. Engl. J. Medication. 381, 1644u00e2 $ "1652 (2019 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Kim, J. et cetera. A structure for individualized splice-switching oligonucleotide therapy. Nature 619, 828u00e2 $ "836 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Lima, W. F. et al. Human RNase H1 differentiates between refined varieties in the design of the heteroduplex substratum. Mol. Pharmacol. 71, 83u00e2 $ "91 (2007 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Crooke, S. T., Cook, B. F., Crooke, R. M. & Liang, X.-H. Antisense technology: a guide as well as prospectus. Nat. Rev. Medication Discov. Twenty, 427u00e2 $ "453 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Lee, J.-R. et al. De novo mutations in the electric motor domain of KIF1A reason intellectual issue, abnormal paraparesis, axonal neuropathy, as well as cerebellar degeneration. Hum. Mutat. 36, 69u00e2 $ "78 (2015 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Boyle, L. et cetera. Genotype and also problems in microtubule-based mobility connect with medical severeness in KIF1A-associated nerve problem. HGG Adv. 2, 100026 (2021 ). CASu00c2.PubMedu00c2.Google Scholaru00c2.Kondo, M., Takei, Y. & Hirokawa, N. Motor protein KIF1A is necessary for hippocampal synaptogenesis and also discovering improvement in an enriched environment. Nerve cell 73, 743u00e2 $ "757 (2012 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Guo, Y. et al. An uncommon KIF1A missense mutation boosts synaptic functionality and boosts seizure task. Front. Genet. 11, 61 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google.com Scholaru00c2.Kaur, S. et al. Development of the phenotypic range of afresh missense variants in kinesin relative 1A (KIF1A). Hum. Mutat. 41, 1761u00e2 $ "1774 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google Scholaru00c2.Canivez, G. L. & McGill, R. J. Variable construct of the Differential Capability Scales-Second Version: exploratory as well as ordered factor evaluations with the center subtests. Psychol. Evaluate. 28, 1475u00e2 $ "1488 (2016 ). Articleu00c2.PubMedu00c2.Google.com Scholaru00c2.Epstein, A. et cetera. Material recognition of the quality of life inventoryu00e2 $" disability. Child Care Wellness Dev. Forty five, 654u00e2 $ "659 (2019 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Lek, M. et cetera. Analysis 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 Debilitating or even Serious Conditions: Professional Recommendations (US Fda, 2022) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/ind-submissions-individualized-antisense-oligonucleotide-drug-products-severely-debilitating-or-lifeIND Articles for Personalized Antisense Oligonucleotide Drug Products: Management as well as Step-by-step Suggestions Advice 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 Medication Application Articles for Individualized Antisense Oligonucleotide Medicine Products for Seriously Exhausting or even Life-Threatening Ailments: Chemical Make Up, Manufacturing, and Controls Recommendations, Advice for Sponsor-Investigators (United States Food and Drug Administration, 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 Drug Products for Drastically Debilitating or Life-Threatening Diseases Assistance for Sponsor-Investigators (US 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.