Defining rare conditions in the era of personalized medicine

Daniel J. O’Connor, Michela Gabaldo, Annemieke Aartsma-Rus, Anneliene Hechtelt Jonker

Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review


The total number of rare conditions is debated, partly because of the variety of definitions of what constitutes rare. A broader consensus view of what rare means, based on improved understanding of individual group and patient clinicopathological characteristics, will help maximize the impact of technological advances in therapeutic development programmes.

Original languageEnglish
Pages (from-to)857-858
Number of pages2
JournalNature Reviews Drug Discovery
Issue number11
Publication statusPublished - Nov 2023


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