A team of Garvan Institute researchers will lead projects to harness genomic research in rare genetic disorders.  

Improving genomic research 

Oxford Nanopore technology will be used by Dr Ira Deveson in a three-year project at the Garvan Institute of Medical Research, establishing a national sequencing programme to address challenging unsolved cases and to improve the identification of the genetic cause of rare diseases. The project involves evaluating and optimising nanopore sequencing for prospective clinical use, as well as determining best practices for sample preparation, sequencing, and analysis to generate high-quality, reliable data.

By incorporating long nanopore sequencing reads into rare genetic disease characterisation, the researchers aim to raise future diagnostic rates, enabling more patients to receive accurate recognition and treatments. Identifying new variants and disease mechanisms may uncover new therapies for these conditions.

Standard gene tests analyse short segments of DNA before assembling them into a full sequence. This traditional method may miss large or complex genetic changes that can also cause disease. By leveraging Oxford Nanopore technology’s ability to sequence any-length fragment of DNA, the researchers will gain a more comprehensive picture of the genome and will be able to detect complex genetic variants that traditional sequencing methods often miss.

Gordon Sanghera, CEO, Oxford Nanopore Technologies, commented:  

“We are delighted for the team and congratulate the researchers on being awarded this important funding. It is great to see so much research being dedicated to rare genetic disorders and with nanopore sequencing data they will get much more comprehensive insights. What you’re missing matters, so with Oxford Nanopore’s ability to sequence any-length fragments of DNA we believe the team will be able to resolve significant blind spots and we look forward to hearing about their progress and discoveries.” 

Dr Ira Deveson, Head of the Genomic Technologies Lab at the Garvan Institute of Medical Research, commented: 

“We believe new generation sequencing technologies will hold the key to unlocking some of the most challenging unsolved cases of rare genetic diseases, changing how we characterise and treat these conditions. Our national programme, involving nanopore sequencing, will not only increase the future overall diagnostic rate but also contribute to the discovery of new genetic variants and potential new treatment approaches for people with rare diseases.” 

The research team was awarded a grant from the Medical Research Future Fund Genomics Health Futures Mission.

The full Garvan Institute of Medical Research announcement is available here.