.Kaufmann, P., Pariser, A. R. & Austin, C. From scientific revelation to therapies for uncommon diseasesu00e2 $" the viewpoint from the National Center for Evolving Translational Sciencesu00e2 $" Workplace of Rare Diseases Analysis. Orphanet J. Rare Dis. Thirteen, 196 (2018 ). Articleu00c2.PubMedu00c2.Google.com Scholaru00c2.Crooke, S. T. A call to upper arms against ultra-rare diseases. Nat. Biotechnol. 39, 671u00e2 $ "677 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Vockley, J. et al. The advancing duty of medical geneticists in the era of genetics treatment: a necessity to ready. Genet. Med. 25, 100022 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Kim, J. et cetera. Patient-customized oligonucleotide treatment for a rare genetic ailment. N. Engl. J. Med. 381, 1644u00e2 $ "1652 (2019 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Kim, J. et cetera. A framework for customized splice-switching oligonucleotide treatment. Type 619, 828u00e2 $ "836 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Lima, W. F. et al. Individual RNase H1 evaluates in between refined variations in the structure of the heteroduplex substrate. Mol. Pharmacol. 71, 83u00e2 $ "91 (2007 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Crooke, S. T., Baker, B. F., Crooke, R. M. & Liang, X.-H. Antisense modern technology: a summary and syllabus. Nat. Rev. Medicine Discov. 20, 427u00e2 $ "453 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Lee, J.-R. et cetera. Afresh mutations in the electric motor domain name of KIF1A trigger cognitive impairment, abnormal paraparesis, axonal neuropathy, and also cerebellar atrophy. Hum. Mutat. 36, 69u00e2 $ "78 (2015 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Boyle, L. et cetera. Genotype and also defects in microtubule-based motility associate along with medical severeness in KIF1A-associated nerve ailment. HGG Adv. 2, 100026 (2021 ). CASu00c2.PubMedu00c2.Google Scholaru00c2.Kondo, M., Takei, Y. & Hirokawa, N. Electric motor healthy protein KIF1A is essential for hippocampal synaptogenesis and also knowing improvement in an enriched atmosphere. Neuron 73, 743u00e2 $ "757 (2012 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Guo, Y. et cetera. An unusual KIF1A missense mutation enriches synaptic function as well as increases confiscation task. Front end. Genet. 11, 61 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google.com Scholaru00c2.Kaur, S. et cetera. Growth of the phenotypic spectrum of de novo missense alternatives 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. & McGill, R. J. Factor structure of the Differential Potential Scales-Second Version: exploratory and hierarchical element analyses with the core subtests. Psychol. Determine. 28, 1475u00e2 $ "1488 (2016 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Epstein, A. et cetera. Material verification of the quality of life inventoryu00e2 $" disability. Child Care Health And Wellness Dev. 45, 654u00e2 $ "659 (2019 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Lek, M. et al. Review of protein-coding hereditary variety in 60,706 humans. Attribute 536, 285u00e2 $ "291 (2016 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.IND Submissions for Individualized Antisense Oligonucleotide Medication Products for Badly Debilitating or even Lethal Health Conditions: Clinical Suggestions (United States Fda, 2022) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/ind-submissions-individualized-antisense-oligonucleotide-drug-products-severely-debilitating-or-lifeIND Submissions for Individual Antisense Oligonucleotide Drug Products: Managerial and also Step-by-step Recommendations Assistance 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 Application Submissions for Tailored Antisense Oligonucleotide Drug Products for Severely Incapacitating or Deadly Health Conditions: Chemistry, Production, and Controls Recommendations, Guidance for Sponsor-Investigators (US Food and Drug Administration, 2022) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/investigational-new-drug-application-submissions-individualized-antisense-oligonucleotide-drugNonclinical Screening of Individualized Antisense Oligonucleotide Drug Products for Seriously Incapacitating or even Life-Threatening Health Conditions Guidance for Sponsor-Investigators (United States Fda, 2021) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/nonclinical-testing-individualized-antisense-oligonucleotide-drug-products-severely-debilitating-or.