Australian researchers are among 250 scientists in 20 countries who have successfully mapped human gene activity. But what are the implications of this new research?
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26 Mar 2014 - 5:28 PM  UPDATED 27 Mar 2014 - 8:29 AM

It’s taken three years and more than 250 researchers around the world, but scientists have finally mapped out gene activity and regulation in the human body.

The FANTOM5 project (which stands for Functional Annonation of the Mammilian Genome) involved more than 250 scientists across 20 countries and regions including Australia, Japan, Denmark, the U.S., the U.K. and Switzerland. It was headed up by Japanese research institute RIKEN.

“Our DNA can be described as a book or dictionary that catalogues all the genes that we know are in humans,” said University of Queensland researcher Dr Kelly Hitchens. Led by Professor Christine Wells, Dr Hitchens was part of the team at UQ that contributed to the project.

“The FANTOM5 project has taken us from having one book to a massive library full of information about how we use our DNA.

“We’re complex organisms and different cells are used in different ways in order to build us and make up different organs, and help us interact with the environment,” Dr Hitchens told SBS. 

The three-year project mapped the network of ‘switches’ in our DNA that control how certain genes are turned on and off – a complex process known as gene regulation.

These switches, known as promoters and enhancers, regulate how our genes are expressed. It’s this process that ensures a muscle cell is different to a skin cell or liver cell, for example.

 

Building on the Human Genome Project

Dr Hitchens said FANTOM5 built on the information already uncovered by the Human Genome Project over ten years ago in 2003.

If the Human Genome Project gave the world a ‘blueprint’ of our DNA, FANTOM5 seeks to explain how and why genes are regulated and expressed; why some cells ‘know’ to turn into liver cells and not something else.

“What we got from the Human Genome Project was a blueprint. We had no idea how it would be interpreted and used,” Dr Hitchens said.

“This project [FANTOM5] is the most comprehensive so far in describing how we use those genes in order to build a human. So all the different cells in our body use the DNA blueprint in a different way – this project describes how they use that.”

The future of medicine?

Ms Hitchens said she was excited by the implications of this research, especially in terms of finding cures for diseases.

“Essentially it’s a resource that we can use to build new technologies for the life sciences. But also, within this library, there may be hidden information that could be used to find cures for different diseases. At the moment, we’re in the process of working out how to extract that information.”

Professor Yoshihide Hayashizaki, the general Director of FANTOM, said in a statement that the research could lead to the development of regenerative and personalised medicine.

“The basic library of cell definition that was produced during FANTOM5 is a remarkable step to manipulating cells,” he said.

“The library will be an essential resource for developing a wide range of technologies for the life sciences that will lead to the development of regenerative and personalized medicine in the near future.”

When asked whether scientists could potentially manipulate gene expression as per Professor Hayashizaki’s comments, Dr Hitchens said it was not the focus of the project at the University of Queensland.

“That’s a little out of the scope of what we’ve done here and what the aims of the project is. Essentially we’re just trying to understand how the DNA is being used.”

However, she does believe in the potential of personalised medicine in curing diseases that are DNA-specific.

“What we’ve done is create a resource where we’ve collected lots of information about how humans use DNA,” she said.

“There’s a potential to find, in certain disease contexts in people, how they might not be using that DNA in the appropriate manner - and that leads to personalised medicine.

“What this project essentially has done is build this resource and now we need to tap into this resource and understand what it’s in there.”

Two studies describing the findings of FANTOM5 have been published in Nature.

What do you think about the FANTOM5 project and its implications, in terms of health, medicine and future technologies?