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Advances in Genetic Diagnostics for Ultrarare Diseases

A Germany-wide multicenter  study has shed light on the genetic diagnosis of ultrarare diseases, emphasizing the importance of exome  Our top picks from the literature advances Today's Clinical Lab November 2024 7 sequencing (ES) in identifying  underlying genetic causes. Conducted  as part of the TRANSLATE NAMSE  innovation fund project, the study  involved the analysis of ES data from  1,577 patients, leading to diagnoses in  499 individuals, including 34 with previously unknown genetic conditions.  The findings have been published in  the journal Nature Genetics. Theresa Brnet, MD, a lead author from the  Institute of Human Genetics at the  Technical University of Munich, said,  “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.” The project aimed to use innovative examination methods  to identify the genetic basis of rare diseases, with the research uncovering changes in 370 different genes. For  the remaining unsolved cases, Tobias  Haack, MD, said, “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.” This initiative aims to continue  the momentum of TRANSLATE  NAMSE, allowing for advanced analysis through methods like long-read sequencing, which enables the detection  of difficult-to-detect genetic changes.  Additionally, the study evaluated the  effectiveness of the GestaltMatcher, an  AI system designed to analyze facial  features for diagnosing congenital  genetic syndromes. Professor Peter  Krawitz highlighted the software’s potential, stating, “GestaltMatcher is like  an expert opinion that we can provide  to any medical professional in a matter  of seconds.” This innovative tool aims  to enhance early diagnosis, particularly during routine pediatric  screenings. The GestaltMatcher software  and app will be accessible to medical  professionals through the non-profit  organization Arbeitsgemeinschaft für  Gen-Diagnostik e.V. (AGD). Schmidt A 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;56:1644–1653