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@ARTICLE{Jonker:274064,
      author       = {Jonker, Anneliene H and Tataru, Elena-Alexandra and
                      Graessner, Holm and Dimmock, David and Jaffe, Adam and
                      Baynam, Gareth and Davies, James and Mitkus, Shruti and
                      Iliach, Oxana and Horgan, Rich and Augustine, Erika F and
                      Bateman-House, Alison and Pasmooij, Anna Maria Gerdina and
                      Yu, Tim and Synofzik, Matthis and Douville, Julie and
                      Lapteva, Larissa and Brooks, Philip John and O'Connor,
                      Daniel and Aartsma-Rus, Annemieke},
      collaboration = {Consortium, N-of-1 Task Force of the International Rare
                      Diseases Research},
      title        = {{T}he state-of-the-art of {N}-of-1 therapies and the
                      {IRD}i{RC} {N}-of-1 development roadmap.},
      journal      = {Nature reviews / Drug discovery},
      volume       = {24},
      number       = {1},
      issn         = {1474-1776},
      address      = {London},
      publisher    = {Nature Publ. Group},
      reportid     = {DZNE-2025-00045},
      pages        = {40 - 56},
      year         = {2025},
      abstract     = {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.},
      subtyp        = {Review Article},
      keywords     = {Single-Case Studies as Topic / Humans / Drug Development:
                      methods / Precision Medicine: methods / Genetic Therapy:
                      methods / Genetic Therapy: trends / Rare Diseases: drug
                      therapy / Rare Diseases: genetics},
      cin          = {AG Gasser},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39496921},
      doi          = {10.1038/s41573-024-01059-3},
      url          = {https://pub.dzne.de/record/274064},
}