Most uncommon illnesses are caused by genetics. A molecular genetic diagnosis can be made more quickly and readily by identifying the underlying genetic change, for instance by exome sequencing (ES). The analysis of every region of our DNA that codes for a protein is known as ES. A comprehensive evaluation of 1,577 patients’ ES data was conducted as part of a multicenter research conducted in Germany. 499 people may now be diagnosed as a result, 34 of whom had previously undiagnosed genetic disorders. As a result, the work significantly advances the first descriptions of novel illnesses. For the first time, artificial intelligence (AI)-based software was widely employed to help clinical diagnosis. When classifying congenital genetic disorders, the AI system “GestaltMatcher” can help with face feature evaluation.
Their findings were published in the journal Nature Genetics.
For the best possible care, ultra-rare illnesses need both sophisticated genetic tests and diverse clinical competence. The three-year TRANSLATE NAMSE innovation fund project got underway at the end of 2017 to use cutting-edge diagnostic approaches to improve the treatment of individuals who are impacted. As part of TRANSLATE NAMSE, researchers from 16 university hospitals examined the ES data of 1,577 patients including 1,309 children who visited rare illness centres. The project’s objective was to apply cutting-edge examination techniques to identify the disease’s origin in as many people as possible. 499 patients 425 of them were children had a genetic aetiology for the uncommon illness. The researchers discovered 370 distinct gene alterations in all.
We are particularly proud of the discovery of 34 new molecular diseases, which is a great example of knowledge-generating patient care at university hospitals,
Dr. Theresa Brunet
We will examine the affected patients for whom we have not yet been able to find a diagnosis as part of the model project Genome Sequencing, or MVGenomSeq for short.
Dr. Tobias Haack
Building on the success of the TRANSLATE NAMSE project, the MVGenomSeq allows clinical genome analysis in university hospitals across Germany. In follow-up investigations, unsolved cases can also be examined using new techniques like long-read sequencing, which analyses significantly longer DNA fragments.
Long-read sequencing enables us to find genetic changes that are difficult to detect and we assume that we will be able to make further diagnoses using this method.
Dr. Nadja Ehmke
In the TRANSLATE NAMSE project context, multidisciplinary case conferences were utilised to build standardised protocols for expanded genomic diagnostics for suspected rare illnesses at the collaborating rare disease centres. After the project was finished, these were added to the routine care.
The interdisciplinary case conferences play an important role for those affected. This enables a comprehensive clinical characterization, which is relevant for the phenotype-based evaluation of the genetic data. In addition, the detected variants can be discussed in an interdisciplinary context.
Dr. Magdalena Danyel
In the TRANSLATE NAMSE project context, multidisciplinary case conferences were utilised to build standardised protocols for expanded genomic diagnostics for suspected rare illnesses at the collaborating rare disease centres. After the project was finished, these were added to the routine care.
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GestaltMatcher is like an expert opinion that we can provide to any medical professional in a matter of seconds. Early diagnosis is essential for those affected by rare diseases and their families. Supportive use of the software by pediatricians could already be useful in the case of abnormalities during the U7 screening at 21 to 24 months or U7a at 34 to 36 months
Peter Krawitz
Any doctors may access the program and app through Arbeitsgemeinschaft für Gen-Diagnostik e.V. (AGD), a non-profit organisation.
Source: Universitatsklinikum Bonn – News.
Journal Reference: Schmidt, Axel, et al. “Next-generation Phenotyping Integrated in a National Framework for Patients with Ultrarare Disorders Improves Genetic Diagnostics and Yields New Molecular Findings.” Nature Genetics, 2024, pp. 1-10, DOI: https://doi.org/10.1038/s41588-024-01836-1.
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