Oxford Nanopore Technologies selected by Murdoch Children’s Research Institute to support landmark research into faster genetic screening for rare disease

Research team awarded state grant to advance genetic screening techniques for rare disorders

Oxford Nanopore Technologies, a global leader in multi-omics sequencing, today announced participation in a project with the Victorian Clinical Genetics Services (VCGS), part of the Murdoch Children’s Research Institute (MCRI), that aim to substantially improve screening for patients with rare genetic neurological conditions.

The Division of Genetics and Genomics at VCGS has been awarded the Victorian Medical Research Acceleration Fund (VMRAF) grant to develop genetic screening techniques for rare disorders using Oxford Nanopore’s sequencing technology. The VCGS project will focus on creating faster, cost-effective methods for characterising repeat expansion disorders (REDs), such as Huntington’s disease, by enabling the sequencing of longer DNA fragments.

'This grant funding will support critical research to develop new screening techniques for rare disorders, and we are proud that this important programme will be supported by Oxford Nanopore’s sequencing technology,' said Gordon Sanghera, CEO of Oxford Nanopore Technologies. 'We are hopeful that the advantages of our platform, including speed, richer data, and affordability will support VCGS in developing improved and accessible screening for critical populations of patients with rare genetic disorders seeking answers.'

Work with research institutions such as MCRI underscore Oxford Nanopore’s focus on fostering innovation in clinical care. By integrating Oxford Nanopore sequencing technology into clinical applications, the research and development team at VCGS are working to advance the role of sequencing in addressing unmet need in the RED space.

'The diagnostic methods we use for REDs have not changed in decades and we still only offer genetic tests for 11 out of over 80 known diseases in this category. This research addresses this very specific gap and builds on the specialised expertise developed by our collaborators right here at MCRI.' said Associate Professor Sebastian Lunke, Head of the Division of Genetics and Genomics at VCGS. 'This research will harness specialised technology developed by our industry partner Oxford Nanopore that can sequence much longer pieces of DNA, which will allow us to read the currently hidden parts that cause rare REDs.'