.Kaufmann, P., Pariser, A. R. & Austin, C. From clinical discovery to therapies for unusual diseasesu00e2 $" the sight from the National Facility for Evolving Translational Sciencesu00e2 $" Office of Rare Diseases Investigation. Orphanet J. Rare Dis. 13, 196 (2018 ). Articleu00c2.PubMedu00c2.Google.com Scholaru00c2.Crooke, S. T. A call to arms against ultra-rare diseases. Nat. Biotechnol. 39, 671u00e2 $ "677 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Vockley, J. et al. The advancing part of health care geneticists in the time of genetics treatment: an urgency to prep. Genet. Medication. 25, 100022 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Kim, J. et al. Patient-customized oligonucleotide therapy for a rare genetic health condition. N. Engl. J. Med. 381, 1644u00e2 $ "1652 (2019 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Kim, J. et al. A structure for customized splice-switching oligonucleotide treatment. Character 619, 828u00e2 $ "836 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Lima, W. F. et cetera. Individual RNase H1 evaluates between refined varieties in the design of the heteroduplex substrate. Mol. Pharmacol. 71, 83u00e2 $ "91 (2007 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Crooke, S. T., Cook, B. F., Crooke, R. M. & Liang, X.-H. Antisense technology: an introduction and also program. Nat. Rev. Drug Discov. 20, 427u00e2 $ "453 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Lee, J.-R. et cetera. Afresh anomalies in the electric motor domain of KIF1A reason intellectual issue, spastic paraparesis, axonal neuropathy, and also cerebellar atrophy. Hum. Mutat. 36, 69u00e2 $ "78 (2015 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Boyle, L. et al. Genotype and also defects in microtubule-based motility correlate along with scientific intensity in KIF1A-associated nerve condition. HGG Adv. 2, 100026 (2021 ). CASu00c2.PubMedu00c2.Google Scholaru00c2.Kondo, M., Takei, Y. & Hirokawa, N. Electric motor healthy protein KIF1A is actually important for hippocampal synaptogenesis as well as discovering augmentation in an enriched environment. Nerve cell 73, 743u00e2 $ "757 (2012 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Guo, Y. et al. An uncommon KIF1A missense anomaly improves synaptic function and increases confiscation task. Front end. Genet. 11, 61 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google Scholaru00c2.Kaur, S. et al. Growth of the phenotypic sphere of afresh missense versions in kinesin relative 1A (KIF1A). Hum. Mutat. 41, 1761u00e2 $ "1774 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google Scholaru00c2.Canivez, G. L. & McGill, R. J. Element framework of the Differential Capability Scales-Second Edition: exploratory and also ordered aspect reviews along with the primary subtests. Psychol. Evaluate. 28, 1475u00e2 $ "1488 (2016 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Epstein, A. et al. Information recognition of the quality of life inventoryu00e2 $" handicap. Day Care Health And Wellness Dev. Forty five, 654u00e2 $ "659 (2019 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Lek, M. et al. Evaluation of protein-coding genetic variation in 60,706 humans. Nature 536, 285u00e2 $ "291 (2016 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.IND Submissions for Individualized Antisense Oligonucleotide Medication Products for Severely Devastating or Life-Threatening Conditions: Scientific Recommendations (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 Submittings for Individual Antisense Oligonucleotide Medication Products: Administrative and also Step-by-step Suggestions 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 Submittings for Individual Antisense Oligonucleotide Medicine Products for Badly Exhausting or even Serious Health Conditions: Chemical Make Up, Manufacturing, and Controls Recommendations, Guidance for Sponsor-Investigators (United States Fda, 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 Medication Products for Gravely Incapacitating or Life-Threatening Conditions Advice 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.