Mice DNA making a difference to human genome studies

The Australian Phenomics Facility (APN), with its new sequencing infrastructure, is making a significant contribution to the worldwide effort to provide biomedical researchers with a protein changing DNA variant in mice for every gene in the human genome, positioning them at the forefront of world science.

The DNA of any 2 people, all 3.1 billion molecules of it, is more than 99.9% identical. The remaining 12,000 molecules however account for the genetic differences.

It took years to sequence and map a single human genome. However, it is now possible to sequence hundreds of genomes a year, relatively cheaply.

With the availability of new sequencing technologies, the scientific community now have the ability to quickly identify variations in our DNA that could possibly lead to disease.

However, understanding the effects of these variations is more complicated than first thought.

“For the majority of these variations, we have little or no information as to how and why they can make an individual susceptible to disease or affect an individual’s response to current or new treatments,” said Belinda Whittle, Head of Genomics Research at the APF. “The mouse is the strongest tool we have for obtaining solid, experimentally-based knowledge about the consequences of genetic variations. The critical need for validated mouse models has been recognised by the world’s leading biomedical research funding agencies and has resulted in a series of coordinated efforts across the globe."

“To aid in better understanding how and which variations in the human genome can make an individual susceptible to disease, the APF is making available to researchers infrastructure for variation discovery in mice, thus producing mouse models of human disease,” said Dr Steve Winslade, CEO of the Australian Phenomics Network. “The significance of this is huge and will have an impact on medical research worldwide, leading to the availability of disease preventions, diagnostics and treatments."