Rare diseases require expert care and detailed genetic tests. The TRANSLATE NAMSE project, which started in late 2017, aims to improve care with modern diagnostics.
Researchers from 16 university hospitals used exome sequencing (ES) to study DNA. They analyzed ES data from 1,577 patients, including 1,309 children, at rare disease centers. The goal was to find the causes of the diseases in as many patients as possible using new methods.
A genetic cause for the rare disease was found in 499 patients, including 425 children. Researchers identified changes in 370 different genes and discovered 34 new molecular diseases. “This shows the value of patient care at university hospitals,” said Dr. Theresa Brunet from TUM.
Dr. Tobias Haack said unresolved cases will be examined using the MVGenomSeq project, which builds on the success of TRANSLATE NAMSE. Long-read sequencing will help detect hard-to-find genetic changes, enabling further diagnoses, according to Dr. Nadja Ehmke from Charité.
The TRANSLATE-NAMSE project created standardized procedures for genetic diagnostics in rare diseases based on interdisciplinary case conferences. These procedures are now part of standard care. “Interdisciplinary conferences help with comprehensive clinical evaluation,” said Dr. Magdalena Danyel from Charité.
Researchers tested the “GestaltMatcher” AI software, which analyzes facial features to diagnose rare diseases, on 224 individuals. The AI showed clinical benefits. “GestaltMatcher provides quick expert opinions, aiding early diagnosis,” said Prof. Peter Krawitz from the University Hospital Bonn. The software can be made available to all doctors through AGD.
The study identified 34 new genetic diseases, highlighting the importance of advanced genetic diagnostics and interdisciplinary care in understanding and treating rare diseases.
Journal reference:
- Schmidt, A., Danyel, M., Grundmann, K. et al. Next-generation phenotyping integrated into a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nature Genetics. DOI: 10.1038/s41588-024-01836-1.