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001     274064
005     20250127091423.0
024 7 _ |a 10.1038/s41573-024-01059-3
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024 7 _ |a 1474-1776
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100 1 _ |a Jonker, Anneliene H
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245 _ _ |a The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap.
260 _ _ |a London
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520 _ _ |a In 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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650 _ 2 |a Single-Case Studies as Topic
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Drug Development: methods
|2 MeSH
650 _ 2 |a Precision Medicine: methods
|2 MeSH
650 _ 2 |a Genetic Therapy: methods
|2 MeSH
650 _ 2 |a Genetic Therapy: trends
|2 MeSH
650 _ 2 |a Rare Diseases: drug therapy
|2 MeSH
650 _ 2 |a Rare Diseases: genetics
|2 MeSH
700 1 _ |a Tataru, Elena-Alexandra
|0 0009-0007-7339-7175
|b 1
700 1 _ |a Graessner, Holm
|b 2
700 1 _ |a Dimmock, David
|0 0000-0001-6690-2523
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700 1 _ |a Jaffe, Adam
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700 1 _ |a Baynam, Gareth
|0 0000-0003-4920-9553
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700 1 _ |a Davies, James
|0 0000-0002-4108-4357
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700 1 _ |a Mitkus, Shruti
|b 7
700 1 _ |a Iliach, Oxana
|b 8
700 1 _ |a Horgan, Rich
|b 9
700 1 _ |a Augustine, Erika F
|b 10
700 1 _ |a Bateman-House, Alison
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700 1 _ |a Pasmooij, Anna Maria Gerdina
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700 1 _ |a Yu, Tim
|0 0000-0003-2988-7701
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700 1 _ |a Synofzik, Matthis
|0 P:(DE-2719)2811275
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700 1 _ |a Douville, Julie
|b 15
700 1 _ |a Lapteva, Larissa
|b 16
700 1 _ |a Brooks, Philip John
|b 17
700 1 _ |a O'Connor, Daniel
|b 18
700 1 _ |a Aartsma-Rus, Annemieke
|b 19
700 1 _ |a Consortium, N-of-1 Task Force of the International Rare Diseases Research
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|e Collaboration Author
773 _ _ |a 10.1038/s41573-024-01059-3
|g Vol. 24, no. 1, p. 40 - 56
|0 PERI:(DE-600)2061062-2
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|p 40 - 56
|t Nature reviews / Drug discovery
|v 24
|y 2025
|x 1474-1776
856 4 _ |u https://pub.dzne.de/record/274064/files/DZNE-2025-00045_Restricted.pdf
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