Medicine

Antisense oligonucleotide treatment in a personal with KIF1A-associated neurological condition

.Kaufmann, P., Pariser, A. R. &amp Austin, C. From clinical exploration to procedures for uncommon diseasesu00e2 $" the scenery from the National Facility for Evolving Translational Sciencesu00e2 $" Workplace of Rare Diseases Research. Orphanet J. Rare Dis. 13, 196 (2018 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Crooke, S. T. A phone call to upper arms versus ultra-rare ailments. Nat. Biotechnol. 39, 671u00e2 $ "677 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Vockley, J. et al. The evolving duty of clinical geneticists in the era of gene therapy: a necessity to prep. Genet. Med. 25, 100022 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Kim, J. et cetera. Patient-customized oligonucleotide treatment for an unusual hereditary condition. N. Engl. J. Medication. 381, 1644u00e2 $ "1652 (2019 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Kim, J. et al. A platform for individualized splice-switching oligonucleotide treatment. Type 619, 828u00e2 $ "836 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Lima, W. F. et al. Human RNase H1 discriminates between refined variants in the structure 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. &amp Liang, X.-H. Antisense modern technology: an outline and also program. Nat. Rev. Drug Discov. Twenty, 427u00e2 $ "453 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Lee, J.-R. et cetera. Afresh anomalies in the motor domain name of KIF1A source cognitive disability, abnormal paraparesis, axonal neuropathy, and also cerebellar degeneration. Hum. Mutat. 36, 69u00e2 $ "78 (2015 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Boyle, L. et al. Genotype as well as defects in microtubule-based motility connect along with scientific severity in KIF1A-associated nerve disorder. HGG Adv. 2, 100026 (2021 ). CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Kondo, M., Takei, Y. &amp Hirokawa, N. Electric motor protein KIF1A is actually necessary for hippocampal synaptogenesis and finding out improvement in a developed setting. Neuron 73, 743u00e2 $ "757 (2012 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Guo, Y. et al. An unusual KIF1A missense mutation boosts synaptic feature and boosts seizure activity. Face. Genet. 11, 61 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google Scholaru00c2.Kaur, S. et al. Development of the phenotypic sphere of de novo missense variants in kinesin member of the family 1A (KIF1A). Hum. Mutat. 41, 1761u00e2 $ "1774 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google Scholaru00c2.Canivez, G. L. &amp McGill, R. J. Element construct of the Differential Capability Scales-Second Edition: exploratory and also ordered variable evaluations along with the primary subtests. Psychol. Examine. 28, 1475u00e2 $ "1488 (2016 ). Articleu00c2.PubMedu00c2.Google.com Scholaru00c2.Epstein, A. et cetera. Web content verification of the lifestyle inventoryu00e2 $" disability. Childcare Wellness Dev. Forty five, 654u00e2 $ "659 (2019 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Lek, M. et cetera. Evaluation of protein-coding genetic variant in 60,706 humans. Nature 536, 285u00e2 $ "291 (2016 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.IND Submissions for Individualized Antisense Oligonucleotide Medicine Products for Badly Incapacitating or Lethal Illness: Clinical 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 Submissions for Individualized Antisense Oligonucleotide Medicine Products: Managerial as well as Procedural Suggestions Guidance 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 Use Submittings for Customized Antisense Oligonucleotide Drug Products for Badly Exhausting or Life-Threatening Diseases: Chemistry, Manufacturing, and Controls Recommendations, Direction 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 Drug Products for Severely Debilitating or Dangerous Illness 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.