EuropeDiagnosis and screening
Genetic data of undiagnosed patients re-examined in Europe: 506 families received a diagnosis
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In Europe, 37 expert centers re-examined data on rare diseases that had not been diagnosed. This study, called Solve-RD, was published in the journal Nature Medicine. The genetic data of 6,447 people from six thousand families were re-analyzed. This systematic review gave a diagnosis to 506 families. With additional review by experts, the overall diagnosis rate rose to 12.6%.
What does it mean for patients and families?
In families whose genetic test did not give an answer, the data can be re-examined years later. This sometimes leads to a diagnosis. You can ask your genetics doctor about this.
Source
Scientific paper: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Nature Medicine, 2025. DOI: 10.1038/s41591-024-03420-w · PubMed 39825153
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.