The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic diagnosis. ES is an examination of all sections of our genetic material (DNA) that code for proteins.
As part of a Germany-wide multicenter study, ES data was collected from 1,577 patients and systematically evaluated. This made it possible to diagnose a total of 499 patients, with 34 patients showing new, previously unknown genetic diseases. The study thus makes a significant contribution to the initial description of new diseases.
In addition, software based on the use of artificial intelligence (AI) was used for the first time on a broad scale to support clinical diagnosis. The "GestaltMatcher" AI system can assist in the assessment of facial features with regard to the classification of congenital genetic syndromes. The results of the study, in which 16 university locations were involved, have now been published in the renowned journal "Nature Genetics".
Ultra-rare diseases require both multidisciplinary clinical expertise and comprehensive genetic diagnostics for optimal care. The three-year TRANSLATE NAMSE innovation fund project began at the end of 2017 with the aim of improving the care of those affected by means of modern diagnostic concepts. Researchers from 16 university hospitals analyzed the ES data of 1,577 patients, including 1,309 children, who presented to rare di.