T-NAMESE + PEDIA

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 disease centers as part of TRANSLATE NAMSE. The aim of the project was to find the cause of the disease in as many patients as possible using innovative examination methods. A genetic cause of the rare disease was identified in 499 patients, 425 of whom were children. In total, we found changes in 370 different genes and discovered 34 new molecular diseases.

We also investigated whether the of computer-assisted image analysis improves diagnostic effectiveness and efficiency. We could show that "GestaltMatcher" can serve phyisicans as a valuable reference tool in the diagnosis of rare diseases, and that labs benefit from gestalt scores in variant interpretation (PEDIA). GestaltMatcher and PEDIA were tested on a broad scale for the first time in the prospective study TRANSLATE NAMSE, establiching the clinical utility of the sofware tool.

The next step to shorten the diagnostic odyssey would be an integration of GestaltMatcher when milestones are not reached in the pediatric check-ups (e.g. Früherkennungsuntersuchungen U7 and U7a).

If you are interested in evaluating GestaltMatcher in pediatric check-ups, please reach out to us (pkrawitz@uni-bonn.de)!