(Alliance News) - Oxford Nanopore Technologies PLC said on Monday said it has reached an agreement with a national German science program to launch a study of the potential applications for nanopore-based sequencing to understand rare diseases.
The Oxford, England-based developer and seller of nanopore sequencing products said it has agreed to launch a two-year pilot study with the Germany-based Clinical Long-read Genome Initiative, lonGER, to evaluate the advantages of technology that can sequence any length DNA fragments and establish firm genetic disease characterisation.
Nanopore sequencing is a technology that enables real-time analysis of deoxyribonucleic acid, DNA, or ribonucleic acid, RNA, fragments.
lonGER is a national German program led by scientists based within four research university medical centres across Germany. The study will allow these medical centres to use Oxford Nanopore's technology.
lonGER said the universities will study a multi-centre cohort of patients with unsolved rare diseases ranging from neurological to neurodevelopmental.
The study will explore the feasibility of using nanopore-based genome sequencing in German clinical practice, with the long-term aim of providing a blueprint for implementation across Germany's sequencing centres.
Oxford Nanopore Technologies said the work is expected to be performed on PromethION 2 and PromethION 24 devices.
PromethION 2 is a modular nanopore sequencing device that allows to sequencing experiments to be run simultaneously or individually. PromethION 24 allows up to 24 sequencing experiments to be run simultaneously or individually, therefore delivering ultra-rapid analysis.
Group leader of lonGER, Florian Kraft, said: "The new V14 chemistry together with PromethION 24 is really a game changer for the application of long read sequencing in the clinical routine."
The company said this analysis will allow researchers to locate different classes of disease-causing variants simultaneously.
lonGER said this study builds on the three-year prospective Translate-Namse study in Germany, which involved 200 clinicians and scientists, and was designed to assess the clinical value of exome sequencing in the ultra-rare disease population.
"Oxford Nanopore's technology is well suited to serve lonGER's aim of improving clinical outcomes by using its ability to sequence any-length fragments of DNA from short to ultra-long," Oxford Nanopore Technologies said.
The company said its ability to scale with plug-and-play benchtop sequences and 'out of the box' workflows means its technology could easily be deployed to other sites.
Chief Executive Officer Gordon Sangera said: "Oxford Nanopore's any read length sequencing technology shows that what you're missing matters as it can deliver comprehensive insights across the whole genome.
"Together with the lonGER consortium, we can unlock the potential of nanopore sequencing technology to drive breakthrough discoveries and transform the lives of those affected by these rare diseases."
Oxford Nanopore Technologies was trading down 0.2% at 246.34 pence in London on Monday morning.
By Will Neill, Alliance News reporter
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