Healthcare and Science thomsonreuters.com

I specialize in DNA and how this vastly unexplained area of human biology can help us predict the likelihood of certain diseases.

I am part of a very ambitious project called 'ENCODE' which aims to produce a catalogue of all the functional regions of human DNA.

We have tremendous understanding of protein genes and where they occur in the human body but these vary considerably from one part of the body to the next. There are a whole series of other issues centred on how genes replicate and how they maintain themselves and we need a better understanding of those processes.

Two years ago the ENCODE consortium published a paper summarizing a pilot project that looked at 1% of the genome and exposed lots of interesting things that we didn't previously understand.

There is a different, very high profile set of projects which are identifying the area of the genome associated with the risk of different diseases.

We have discovered there are some parts of the DNA system focused on protein which if you have one variant, for example, you either might be at a slightly higher risk of contracting heart disease or at a lower risk of getting diabetes.

It has given us some idea of how those different variants are influencing risk in people but there is a vast area of middle ground that is difficult to understand or interpret why these people might be susceptible to either heart attacks or diabetes.

This project gives people the first glimmer of what could be going on in that massive middle region of the genome. Whilst the term 'Junk DNA' is very snappy, it's not at all accurate. During the ENCODE pilot project we discovered that, unsurprisingly, this extra part of the genome is alive with information and potentially very useful. 

Our research shows that this is a really extensive area and a lot of the genome out there is doing many things which we don't fully understand.