Medicine

Antisense oligonucleotide treatment in an individual with KIF1A-associated nerve ailment

.Kaufmann, P., Pariser, A. R. &amp Austin, C. Coming from medical revelation to procedures for unusual diseasesu00e2 $" the sight coming from the National Center for Progressing Translational Sciencesu00e2 $" Workplace of Rare Diseases Research. Orphanet J. Rare Dis. 13, 196 (2018 ). Articleu00c2.PubMedu00c2.Google.com Scholaru00c2.Crooke, S. T. A phone call to upper arms against ultra-rare ailments. Nat. Biotechnol. 39, 671u00e2 $ "677 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Vockley, J. et al. The developing role of health care geneticists in the period of gene therapy: a necessity to ready. Genet. Med. 25, 100022 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Kim, J. et cetera. Patient-customized oligonucleotide therapy for an unusual genetic illness. N. Engl. J. Medication. 381, 1644u00e2 $ "1652 (2019 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Kim, J. et cetera. A platform for tailored splice-switching oligonucleotide therapy. Nature 619, 828u00e2 $ "836 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Lima, W. F. et cetera. Individual RNase H1 evaluates between refined variations in the framework of the heteroduplex substrate. Mol. Pharmacol. 71, 83u00e2 $ "91 (2007 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Crooke, S. T., Cook, B. F., Crooke, R. M. &amp Liang, X.-H. Antisense modern technology: a summary as well as program. Nat. Rev. Medicine Discov. 20, 427u00e2 $ "453 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Lee, J.-R. et al. De novo anomalies in the motor domain of KIF1A cause cognitive 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 flaws in microtubule-based motility correlate with medical seriousness in KIF1A-associated nerve disorder. HGG Adv. 2, 100026 (2021 ). CASu00c2.PubMedu00c2.Google Scholaru00c2.Kondo, M., Takei, Y. &amp Hirokawa, N. Electric motor protein KIF1A is actually crucial for hippocampal synaptogenesis as well as finding out enlargement in a developed environment. Nerve cell 73, 743u00e2 $ "757 (2012 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Guo, Y. et al. An uncommon KIF1A missense anomaly enhances synaptic functionality as well as increases seizure task. Front. Genet. 11, 61 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google Scholaru00c2.Kaur, S. et al. Development of the phenotypic sphere of afresh missense alternatives in kinesin loved one 1A (KIF1A). Hum. Mutat. 41, 1761u00e2 $ "1774 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google Scholaru00c2.Canivez, G. L. &amp McGill, R. J. Factor framework of the Differential Capability Scales-Second Edition: exploratory as well as hierarchical aspect analyses with the center subtests. Psychol. Determine. 28, 1475u00e2 $ "1488 (2016 ). Articleu00c2.PubMedu00c2.Google.com Scholaru00c2.Epstein, A. et cetera. Web content validation of the lifestyle inventoryu00e2 $" impairment. Childcare Health Dev. Forty five, 654u00e2 $ "659 (2019 ). Articleu00c2.PubMedu00c2.Google.com Scholaru00c2.Lek, M. et cetera. Study of protein-coding genetic variation in 60,706 humans. Attributes 536, 285u00e2 $ "291 (2016 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.IND Submissions for Individualized Antisense Oligonucleotide Medicine Products for Badly Debilitating or Deadly Illness: Professional Referrals (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 Customized Antisense Oligonucleotide Drug Products: Management and Procedural Recommendations 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 Medicine Use Entries for Tailored Antisense Oligonucleotide Medication Products for Drastically Debilitating or Life-Threatening Health Conditions: Chemical Make Up, Manufacturing, as well as Controls Recommendations, Advice 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 Testing of Individualized Antisense Oligonucleotide Drug Products for Severely Debilitating or even Severe Ailments 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.