24 November 2014

Medical research technology is moving at an incredible pace.

Just 20 years ago, DNA sequencing required elaborate sample preparation, batteries of specialised machines and deep pockets. That same process can now be performed in a few hours on a lab bench, using a device the size of a muesli bar.

The device, a miniature DNA sequencer called MinION, was developed by Oxford Nanopore Technologies and is being trialled at the Malaghan Institute by Professor Mike Berridge, Dr James Baty and bioinformaticist David Eccles. Our Institute is one of around 500 research laboratories worldwide that are trialling a prototype ahead of the release of a commercial version.

“It’s a very impressive device that changes almost everything about how sequencing is done,” says Professor Berridge. “Our ability to sequence DNA in a matter of hours was impossible ten years ago, meaning the speed at which we can ask questions and find answers has greatly accelerated.”

The device connects to a laptop via a USB and genetic sequences are read off as a sample travels through hundreds of tiny pores in the device.

“We don’t have to send samples of DNA away to be sequenced, but can do it here, in real time. MinION’s size, speed and convenience are revolutionary for the work we are doing.”

“When I started in medical research it was inconceivable that we could sequence even small DNA molecules, let alone a human genome consisting of three billion units. This DNA sequencer is helping us sequence and compare different mitochondrial genomes, which are small compared with nuclear DNA, with only 16,300 bases.

“We see applications for this device in aiding our understanding of tumour formation and metastasis. Although mutations in mitochondrial DNA occur with high frequency in human tumours, their role, if any, in the development of cancer is unclear. Understanding the development of cancer at this fundamental level could have far-reaching impacts on the development of new treatments.”