Extract
Steve Jobs once said “You can't connect the dots looking forward; you can only connect them looking backwards. So you have to trust that the dots will somehow connect in your future.” This holds especially true when dealing with rare conditions. Patterns often only emerge when you step back from individual patients and clinics and look over large multicentre datasets. Clinical registries are set up with the anticipation of finding patterns that can shed light onto disease processes, prognosis and differences between patient groups.
Shareable abstract
The study by J. Raidt and co-workers in this issue of the European Respiratory Journal exemplifies the power and importance of rare disease registries, with such large multiscale clinical datasets with linked genotypes, in stratifying patients with PCD. https://bit.ly/4eEWVjz
Footnotes
Conflict of interest: A. Horani reports support for the present study from National institute of health (K08HL150223). P. Mill reports support for the present study from UKRI Medical Research Council (MC_PC_21044, MR_Y015002_1) and European Research Council (ERC) (grant number 866355), payment or honoraria for lectures, presentations, manuscript writing or educational events from Pfizer, and leadership roles within Ciliopathy Alliance (scientific advisory board member) and PCD Research (scientific advisory panel member).
Support statement: A. Horani was supported by a National Institutes of Health (NIH) grant (K08HL150223). P. Mill is grateful for support from the UKRI Medical Research Council (MR_Y015002_1 and MC_PC_21044), as well as from the European Research Council (ERC) under the European Union's Horizon 2020 research and innovation programme (grant agreement number 866355). Funding information for this article has been deposited with the Crossref Funder Registry.
- Received May 27, 2024.
- Accepted June 18, 2024.
- Copyright ©The authors 2024. For reproduction rights and permissions contact permissions{at}ersnet.org
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