Medicine

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

.Kaufmann, P., Pariser, A. R. &amp Austin, C. From clinical discovery to treatments for uncommon diseasesu00e2 $" the viewpoint coming from the National Facility for Accelerating Translational Sciencesu00e2 $" Workplace of Rare Diseases Investigation. Orphanet J. Rare Dis. Thirteen, 196 (2018 ). Articleu00c2.PubMedu00c2.Google.com Scholaru00c2.Crooke, S. T. A phone call to upper arms against ultra-rare 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 era of genetics treatment: a seriousness to ready. Genet. Med. 25, 100022 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Kim, J. et cetera. Patient-customized oligonucleotide treatment for an unusual genetic health condition. N. Engl. J. Medication. 381, 1644u00e2 $ "1652 (2019 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Kim, J. et cetera. A platform for tailored splice-switching oligonucleotide treatment. Character 619, 828u00e2 $ "836 (2023 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Lima, W. F. et al. Human RNase H1 evaluates in between subtle varieties in the construct of the heteroduplex substratum. Mol. Pharmacol. 71, 83u00e2 $ "91 (2007 ). Articleu00c2.CASu00c2.PubMedu00c2.Google Scholaru00c2.Crooke, S. T., Baker, B. F., Crooke, R. M. &amp Liang, X.-H. Antisense modern technology: an overview and prospectus. Nat. Rev. Drug Discov. Twenty, 427u00e2 $ "453 (2021 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Lee, J.-R. et al. Afresh mutations in the motor domain of KIF1A trigger cognitive issue, abnormal 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 issues in microtubule-based motility connect with scientific severeness in KIF1A-associated neurological disorder. HGG Adv. 2, 100026 (2021 ). CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Kondo, M., Takei, Y. &amp Hirokawa, N. Motor healthy protein KIF1A is actually essential for hippocampal synaptogenesis as well as learning improvement in an enriched atmosphere. Nerve cell 73, 743u00e2 $ "757 (2012 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.Guo, Y. et cetera. An uncommon KIF1A missense mutation improves synaptic feature and enhances seizure activity. Face. Genet. 11, 61 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google Scholaru00c2.Kaur, S. et cetera. Growth of the phenotypic spectrum of afresh missense alternatives in kinesin loved one 1A (KIF1A). Hum. Mutat. 41, 1761u00e2 $ "1774 (2020 ). Articleu00c2.CASu00c2.PubMedu00c2.PubMed Centralu00c2.Google.com Scholaru00c2.Canivez, G. L. &amp McGill, R. J. Aspect design of the Differential Capacity Scales-Second Version: exploratory as well as ordered element reviews with the center subtests. Psychol. Evaluate. 28, 1475u00e2 $ "1488 (2016 ). Articleu00c2.PubMedu00c2.Google.com Scholaru00c2.Epstein, A. et cetera. Material verification of the quality of life inventoryu00e2 $" disability. Childcare Health And Wellness Dev. 45, 654u00e2 $ "659 (2019 ). Articleu00c2.PubMedu00c2.Google.com Scholaru00c2.Lek, M. et al. Evaluation of protein-coding genetic variant in 60,706 humans. Attribute 536, 285u00e2 $ "291 (2016 ). Articleu00c2.CASu00c2.PubMedu00c2.Google.com Scholaru00c2.IND Submissions for Individualized Antisense Oligonucleotide Medicine Products for Drastically Devastating or Life-Threatening Diseases: Professional Suggestions (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 Personalized Antisense Oligonucleotide Medicine Products: Management as well as Step-by-step 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 Medication Application Submittings for Individual Antisense Oligonucleotide Drug Products for Significantly Devastating or Deadly Diseases: Chemical Make Up, Manufacturing, and also Controls Recommendations, Assistance for Sponsor-Investigators (United States Food and Drug Administration, 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 Badly Debilitating or Life-Threatening Diseases Guidance 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.

Articles You Can Be Interested In