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000274064 1001_ $$00000-0001-5883-7610$$aJonker, Anneliene H$$b0
000274064 245__ $$aThe state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap.
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000274064 520__ $$aIn recent years, a small number of people with rare diseases caused by unique genetic variants have been treated with therapies developed specifically for them. This pioneering field of genetic N-of-1 therapies is evolving rapidly, giving hope for the individualized treatment of people living with very rare diseases. In this Review, we outline the concept of N-of-1 individualized therapies, focusing on genetic therapies, and illustrate advances and challenges in the field using cases for which therapies have been successfully developed. We discuss why the traditional drug development and reimbursement pathway is not fit for purpose in this field, and outline the pragmatic, regulatory and ethical challenges this poses for future access to N-of-1 therapies. Finally, we provide a roadmap for N-of-1 individualized therapy development.
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000274064 650_2 $$2MeSH$$aSingle-Case Studies as Topic
000274064 650_2 $$2MeSH$$aHumans
000274064 650_2 $$2MeSH$$aDrug Development: methods
000274064 650_2 $$2MeSH$$aPrecision Medicine: methods
000274064 650_2 $$2MeSH$$aGenetic Therapy: methods
000274064 650_2 $$2MeSH$$aGenetic Therapy: trends
000274064 650_2 $$2MeSH$$aRare Diseases: drug therapy
000274064 650_2 $$2MeSH$$aRare Diseases: genetics
000274064 7001_ $$00009-0007-7339-7175$$aTataru, Elena-Alexandra$$b1
000274064 7001_ $$aGraessner, Holm$$b2
000274064 7001_ $$00000-0001-6690-2523$$aDimmock, David$$b3
000274064 7001_ $$aJaffe, Adam$$b4
000274064 7001_ $$00000-0003-4920-9553$$aBaynam, Gareth$$b5
000274064 7001_ $$00000-0002-4108-4357$$aDavies, James$$b6
000274064 7001_ $$aMitkus, Shruti$$b7
000274064 7001_ $$aIliach, Oxana$$b8
000274064 7001_ $$aHorgan, Rich$$b9
000274064 7001_ $$aAugustine, Erika F$$b10
000274064 7001_ $$aBateman-House, Alison$$b11
000274064 7001_ $$aPasmooij, Anna Maria Gerdina$$b12
000274064 7001_ $$00000-0003-2988-7701$$aYu, Tim$$b13
000274064 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b14
000274064 7001_ $$aDouville, Julie$$b15
000274064 7001_ $$aLapteva, Larissa$$b16
000274064 7001_ $$aBrooks, Philip John$$b17
000274064 7001_ $$aO'Connor, Daniel$$b18
000274064 7001_ $$aAartsma-Rus, Annemieke$$b19
000274064 7001_ $$aConsortium, N-of-1 Task Force of the International Rare Diseases Research$$b20$$eCollaboration Author
000274064 773__ $$0PERI:(DE-600)2061062-2$$a10.1038/s41573-024-01059-3$$gVol. 24, no. 1, p. 40 - 56$$n1$$p40 - 56$$tNature reviews / Drug discovery$$v24$$x1474-1776$$y2025
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