ENCODE Project

The Encyclopedia of DNA Elements (ENCODE) project is a research project involving a number of organisations from around the world. The project is looking into the entirety of the human genome, it began in 2003 and recently (September 2012) some very important results were published. The results featured in major journals such as 'Nature' - take a look if you can get hold of them!

The areas of the human genome that do not code for protein (98% of the genome) were previously considered to be regions of "junk DNA" with no specific purpose however this project has shown that these non-coding regions are in fact functional and play a very important role. Their primary role is to control gene expression, something I picture as on/off switches.

It is thought that many of these expression regions could be causally linked to disease. Previous research showing similarities or mutations in these non-coding regions may have been ignored because the regions were believed to contain "junk DNA" - if this is the case much of this research will have to be reconsidered and reinterpreted.

What about the future? These recent findings are only an initial exploration of the non-coding regions of the genome and further research will have to take place. This research will focus on trying to find true causal genetic links and to do so will need to consider a wide number of cell types.

Continuing with the topic of genetics, an article on the BBC today describes a plan to sequence the entire human genome in up to 100,000 patients with cancer and other rare diseases. The article does not mention ENCODE but perhaps the decision has come about following the research project?

The Prime Minister has set aside £100m for the sequencing. The ultimate aim is to give a better understanding of a patients genetic make up and how it differs with disease. This will hopefully then lead to better targeting of medicines in the treatment or prevention of disease. Currently there are tests for diseases caused by a single gene however much less is known about diseases involving complex relationships between genes and such relationships may even be influenced by lifestyle/the environment. It is understanding and targeting these relationships that will be a major challenge for geneticists and doctors over the coming years!

(Source: BBC Health)