Medicine

Antisense oligonucleotide therapy in a specific with KIF1A-associated neurological condition

.Kaufmann, P., Pariser, A. R. &amp Austin, C. Coming from clinical exploration to therapies for uncommon diseasesu00e2 $" the sight from the National Facility for Advancing Translational Sciencesu00e2 $" Office of Rare Diseases Study. Orphanet J. Rare Dis. Thirteen, 196 (2018 ). Articleu00c2.PubMedu00c2.Google Scholaru00c2.Crooke, S. T. A phone call to arms versus ultra-rare illness. Nat. Biotechnol. 39, 671u00e2 $ "677 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Vockley, J. et cetera. The evolving task of clinical geneticists in the age of genetics treatment: an urgency to ready. Genet. Med. 25, 100022 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Kim, J. et al. Patient-customized oligonucleotide treatment for an uncommon genetic ailment. N. Engl. J. Medication. 381, 1644u00e2 $ "1652 (2019 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Kim, J. et cetera. A platform for personalized splice-switching oligonucleotide treatment. Nature 619, 828u00e2 $ "836 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Lima, W. F. et cetera. Individual RNase H1 evaluates in between subtle variants in the design 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 technology: an outline and program. Nat. Rev. Medicine Discov. 20, 427u00e2 $ "453 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Lee, J.-R. et al. De novo anomalies in the electric motor domain name of KIF1A trigger cognitive disability, 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 defects in microtubule-based mobility correlate along with scientific extent in KIF1A-associated neurological problem. HGG Adv. 2, 100026 (2021 ). CASu00c2.PubMedu00c2.Google Scholaru00c2.Kondo, M., Takei, Y. &amp Hirokawa, N. Motor protein KIF1A is crucial for hippocampal synaptogenesis as well as discovering improvement in a developed atmosphere. Neuron 73, 743u00e2 $ "757 (2012 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Guo, Y. et cetera. A rare KIF1A missense anomaly enhances synaptic functionality as well as increases seizure task. Face. Genet. 11, 61 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google Scholaru00c2.Kaur, S. et cetera. Expansion of the phenotypic range of afresh 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. &amp McGill, R. J. Factor structure of the Differential Potential Scales-Second Edition: exploratory and also hierarchical factor analyses along with the center subtests. Psychol. Analyze. 28, 1475u00e2 $ "1488 (2016 ). Articleu00c2.PubMedu00c2.Google.com Scholaru00c2.Epstein, A. et cetera. Material validation of the lifestyle inventoryu00e2 $" disability. Day Care Health And Wellness Dev. Forty five, 654u00e2 $ "659 (2019 ). Articleu00c2.PubMedu00c2.Google.com Scholaru00c2.Lek, M. et cetera. Evaluation of protein-coding hereditary variety in 60,706 people. Attributes 536, 285u00e2 $ "291 (2016 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.IND Submissions for Individualized Antisense Oligonucleotide Medicine Products for Seriously Devastating or Dangerous Health Conditions: Medical Referrals (United States 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 Submissions for Personalized Antisense Oligonucleotide Medicine Products: Administrative as well as Procedural Suggestions Advice for Sponsor-Investigators (US Fda, 2021) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/ind-submissions-individualized-antisense-oligonucleotide-drug-products-administrative-and-proceduralInvestigational New Drug Application Articles for Individual Antisense Oligonucleotide Drug Products for Badly Devastating or Lethal Health Conditions: Chemistry, Production, as well as Controls Recommendations, Assistance 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 Drug Products for Gravely Incapacitating or even Deadly Ailments Advice for Sponsor-Investigators (US Fda, 2021) https://www.fda.gov/regulatory-information/search-fda-guidance-documents/nonclinical-testing-individualized-antisense-oligonucleotide-drug-products-severely-debilitating-or.

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