.Kaufmann, P., Pariser, A. R. & Austin, C. From clinical discovery to procedures for rare diseasesu00e2 $" the perspective coming from the National Center for Progressing Translational Sciencesu00e2 $" Office of Rare Diseases Research Study. Orphanet J. Rare Dis. 13, 196 (2018 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Crooke, S. T. A phone call to upper arms versus ultra-rare health conditions. Nat. Biotechnol. 39, 671u00e2 $ "677 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Vockley, J. et al. The developing task of health care geneticists in the period of genetics therapy: a necessity to ready. Genet. Med. 25, 100022 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Kim, J. et al. Patient-customized oligonucleotide treatment for an uncommon genetic condition. N. Engl. J. Medication. 381, 1644u00e2 $ "1652 (2019 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Kim, J. et al. A platform for customized splice-switching oligonucleotide treatment. Structure 619, 828u00e2 $ "836 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Lima, W. F. et al. Individual RNase H1 discriminates between refined varieties in the structure 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. & Liang, X.-H. Antisense technology: an overview as well as prospectus. Nat. Rev. Medication Discov. 20, 427u00e2 $ "453 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Lee, J.-R. et al. De novo mutations in the electric motor domain of KIF1A cause cognitive problems, spastic paraparesis, axonal neuropathy, and also cerebellar degeneration. Hum. Mutat. 36, 69u00e2 $ "78 (2015 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Boyle, L. et cetera. Genotype as well as problems in microtubule-based motility correlate with medical severity in KIF1A-associated nerve disorder. HGG Adv. 2, 100026 (2021 ). CASu00c2.PubMedu00c2.Google Scholaru00c2.Kondo, M., Takei, Y. & Hirokawa, N. Electric motor healthy protein KIF1A is important for hippocampal synaptogenesis as well as knowing enlargement in a developed atmosphere. Nerve cell 73, 743u00e2 $ "757 (2012 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Guo, Y. et al. An uncommon KIF1A missense mutation boosts synaptic functionality as well as improves seizure task. Front end. Genet. 11, 61 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google.com Scholaru00c2.Kaur, S. et cetera. Growth of the phenotypic range of de novo missense variations in kinesin family member 1A (KIF1A). Hum. Mutat. 41, 1761u00e2 $ "1774 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google Scholaru00c2.Canivez, G. L. & McGill, R. J. Variable design of the Differential Capability Scales-Second Version: exploratory and also hierarchical element reviews along with the core subtests. Psychol. Examine. 28, 1475u00e2 $ "1488 (2016 ). Articleu00c2.PubMedu00c2.Google.com Scholaru00c2.Epstein, A. et cetera. Content verification of the quality of life inventoryu00e2 $" disability. Child Care Health Dev. 45, 654u00e2 $ "659 (2019 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Lek, M. et al. Study of protein-coding hereditary variation in 60,706 humans. Attributes 536, 285u00e2 $ "291 (2016 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.IND Submissions for Individualized Antisense Oligonucleotide Drug Products for Significantly Exhausting or Life-Threatening Diseases: Medical Suggestions (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 Individual Antisense Oligonucleotide Drug Products: Managerial and also Procedural Referrals Direction for Sponsor-Investigators (United States Fda, 2021) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/ind-submissions-individualized-antisense-oligonucleotide-drug-products-administrative-and-proceduralInvestigational New Medicine Treatment Submissions for Tailored Antisense Oligonucleotide Drug Products for Drastically Incapacitating or Serious Conditions: Chemical Make Up, Manufacturing, and 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 Seriously Incapacitating or Life-Threatening Ailments Guidance 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.