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National German rare disease study
National German rare disease study.
About this update from Oxford Nanopore Technologies Plc
[{"type":"text","content":"\n\n \nOxford Nanopore Technologies plc\nNational German rare disease study\n \n12 June 2023\nOxford Nanopore Technologies plc (LSE: ONT) (\"Oxford Nanopore\"), the company delivering a new generation of nanopore-based molecular sensing technology, today announces a research collaboration agreement with the 'Clinical Long-read Genome Initiative' (lonGER), a new national German programme developed to evaluate the clinical and research applications of comprehensive nanopore-based sequencing to advance the understanding of rare disease.\nScientists within four German research university medical centres - Uniklinik RWTH Aachen (Ingo Kurth, Florian Kraft), Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, and Berlin Institute of Health at Charité (BIH) (Nadja Ehmke, Janine Altmüller, Manuel Holtgrewe), Medical Scholl Hannover (Bernd Auber, Gunnar Schmidt), University of Tübingen (Tobias Haack, Stephan Ossowski) -- will use Oxford Nanopore's technology to evaluate the advantages of technology that can sequence any length DNA fragments, from short to ultra-long, when establishing firm genetic disease characterisation. The universities will study a multi-centre cohort of patients with unsolved rare diseases, e.g. neurological, neurodevelopmental and imprinting disorders.\nThe two-year pilot study will explore the benefits and feasibility of nanopore-based genome sequencing in German clinical practice, with a broader aim to provide a blueprint for implementation across Germany's sequencing centres.\nThe work is expected to be performed on PromethION 2 (P2) and PromethION 24 (P24) devices. P24 is capable of running up to 24 flow cells at once and is therefore uniquely designed to enable accelerated sequencing and to deliver ultra-rapid analysis. This will enable the researchers to identify different classes of disease-causing variants simultaneously using the latest high-accuracy chemistry, including single nucleotide variations (SNVs), structural variations (SVs) and also methylation, all in one assay.\nThis study builds on structured diagnostic processes established and evaluated within the TRANSLATE-NAMSE (TNAMSE) study, which was a three-year prospective study in Germany that involved more than 200 clinicians and scientists and was designed to assess the clinical value of exome sequen...