New Diagnostic Method for Detecting Ultra-Rare Diseases
A research team in Germany has made significant progress in diagnosing ultra-rare diseases by integrating a new, next-generation phenotyping approach into the national healthcare system. During the three-year study called TRANSLATE NAMSE, 1,577 patients were examined, undergoing exome sequencing, and were partially analyzed using next-generation phenotyping methods.
The research succeeded in establishing a molecular genetic diagnosis in 32% of the patients, identifying a total of 370 different genetic causes, most of which have a prevalence of less than 1:50,000. During the diagnostic process, 34 new and 23 potential genotype-phenotype correlations were discovered, primarily in individuals with neurodevelopmental disorders. The research demonstrates how the combined use of next-generation sequencing and phenotyping improves the diagnosis of ultra-rare diseases.
At iBio, our goal is to support families with similarly innovative genetic diagnostic tools for early disease detection, thereby alleviating the burden on healthcare services.
