Detailed map of genome function


Fergus Walsh explains the latest findings

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Scientists have published the most detailed analysis to date of the human genome.

They've discovered a far larger chunk of our genetic code is biologically active than previously thought.

The researchers hope the findings will lead to a deeper understanding of numerous diseases, which could lead to better treatments.

More than 400 scientists in 32 laboratories in the UK, US, Spain, Singapore and Japan were involved.

Their findings are published in 30 connected open-access papers appearing in three journals, Nature, Genome Biology and Genome Research.

The Encyclopedia of DNA Elements (Encode) was launched in 2003 with the goal of identifying all the functional elements within the human genome.

A pilot project looking at 1% of the genome was published in 2007.

Now the Encode project has analysed all three billion pairs of genetic code that make up our DNA.

Start Quote

This will give researchers a whole new world to explore and ultimately, it's hoped, will lead to new treatments.”

End Quote Dr Ewan Birney Encode

They have found 80% of our genome is performing a specific function.

Up to now, most attention has been focused on protein-coding genes, which make up just 2% of the genome.

Junk DNA

Genes are small sections of DNA that contain instructions for which chemicals - proteins - they should produce.

The Encode team analysed the vast area of the genome sometimes called "junk DNA" because it seemed to have little function and was poorly understood.

Dr Ewan Birney, of the European Bioinformatics Institute in Cambridge, who led the analysis, told me: "The term junk DNA must now be junked.

"It's clear from this research that a far bigger part of the genome is biologically active than was previously thought."


The scientists also identified four million gene "switches". These are sections of DNA that control when genes are switched on or off in cells.

They said the switches were often a long way along the genome from the gene they controlled.

dna More of human DNA is active than was thought

Dr Birney said: "This will help in our understanding of human biology. Many of the switches we have identified are linked to changes in risk for conditions from heart disease to diabetes or mental illness. This will give researchers a whole new world to explore and ultimately, it's hoped, will lead to new treatments."

Scientists acknowledge that it is likely to be many years before patients see tangible benefits from the project.

But another of the Encode team, Dr Ian Dunham said the data could ultimately be of help in every area of disease research.

"Encode gives us a set of very valuable leads to follow to discover key mechanisms at play in health and disease. Those can be exploited to create entirely new medicines, or to repurpose existing treatments."

Wellcome Trust Sanger Institute director Prof Mike Stratton said the results were "remarkable" and would "stand as a foundation stone for human biology for many years".

He added: "The Encode project will change the way many researchers conduct their science and give those who seek to understand disease a much better grasp of where genetic variation can affect our genome for ill."

Fergus Walsh Article written by Fergus Walsh Fergus Walsh Medical correspondent

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  • rate this

    Comment number 107.

    Oh yes involve god in it,whydontyou?

    Medicine is medicine and life is Genetics?

  • rate this

    Comment number 106.

    I am excited about the possibilities of such a project so long as there are safeguards.
    1.No patenting for profit, anything that can help the human race, must do that not just the rich.
    2.The information is shared, to prevent genetic diseases form being made to target specific population or just families and individuals
    3.This is written into international law all nations must comply.

  • rate this

    Comment number 105.

    This is wonderful, we ones understood the Human Genome Project which was just 30% of the human genome, and yet, we could understand how some diseases like diabetes were treatable by gene therapy....well, this is a break thru to so many genetic diseases! Bravo!

  • rate this

    Comment number 104.

    If we sort this quickly the paralympics will become redundant as people can be altered at our will, growing new arms and legs and disease becoming a thing of the past.
    I for one worry that many jobs will be lost like overpaid doctors.

  • rate this

    Comment number 103.

    92.Big John the Red
    "Brilliant. But genetics still has a long way to go."

    Genetics isn't the whole story. We are preoccupied with finding "The bad guy", but there isn’t just one “bad guy” in this story and we shouldn’t focus on seeking a single cause of diseases and afflictions that threaten us in today’s environment. One of our greatest enemies is cortisol.

  • rate this

    Comment number 102.

    So how does Intelligent Design stack up? Well, its 2.5 billion years since the project started, the development budget has long gone, the geological record is crowded with the false starts, plainly silly ideas (the Burgess shale..) and we have a multitude of creatures with serious design defects - as pointed out by Plato. Sounds more like God the Crap Development Engineer to me!

  • rate this

    Comment number 101.

    72.paulmerhaba wrote
    "Eating and breathing through the same hole, which leaves us vulnerable to choking. etc"

    Your'e not an engineer then. it's called optimal design.

  • rate this

    Comment number 100.

    @ 86. Sixp
    "Just control population growth, look after the planet and enjoy the benefits of technology!"

    JUST control population growth? How do you propose we do that? Who is going to set up the world government that is accepted by everyone, how does that government decide who has how many children and how do they enforce it? Not my idea of Utopia.

  • rate this

    Comment number 99.

    78 GemmaS
    You have no idea how research works - and even if you did, its purpose is to help people not provide jobs for the Gemmas

    75 Brian
    You need therapy my friend

    Working together - publishing for all with no patent restrictions, this is research at its best. Who knows where it will lead of course - but that's the nature of the work.

  • rate this

    Comment number 98.


    my ar*e

    Yes she did that too!

  • rate this

    Comment number 97.

    Robert Lucien
    1 Hour ago

    Hands up all those who thought right from the beginning that 'junk' DNA wasn't just going to be just junk.

    o/ I just figure for all our advances which is good on a grand scale were still primative with technology and biology. All tells us is that junk isnt junk and does stuff, basically all it could do anyway if its not junk

    The question is will we understand ever.

  • rate this

    Comment number 96.

    "Science will be the death of us."

    No, Adam's sin is the death of us.

  • rate this

    Comment number 95.

    Thinking about this - given that 80% of the DNA has some identifiable function (and the proportion seems to be increasing with each new study), I wonder how this should affect our interpretation of DNA fingerprinting. Presumably some random sequences of 'junk' DNA cause make it less likely that a person survives long enough to commit any crime. If so, then the odds of matching DNA goes up.

  • rate this

    Comment number 94.

    Scientist or humane/God/politician/bureaucrats problem is that they think they are leading and helping nature in its development, but not. If some one jump other gets ill another get naked, what you will say? Other creatures/animals are helping, developing more in natural process of nature. Genetic theory is complicated as humane living itself. Infect humane has never lived, it is animal desires.

  • rate this

    Comment number 93.

    Science will be the death of us.

  • rate this

    Comment number 92.

    Brilliant. But genetics still has a long way to go.

  • rate this

    Comment number 91.

    It's sort of sad, that in reacting negatively to 'Pro Design' comments, some people are almost dismissing how remarkable life really is. Wherever we come from, we sure are amazing - or at least, my kids are!

  • rate this

    Comment number 90.

    Creating a computerized database will mean that new DNA regions may have their roles predicted by computer model, therefore reducing the need for researchers and PostDocs to experiment in the areas at all… hmmmm not a clever idea"

    I see your point but the science would not be complete without validation of the predictions, and that requires researchers. Still got a few years yet :)

  • rate this

    Comment number 89.

    Tolvir wrote

    "Why Mother Nature of course. It took her a very long time and much trial and error but the finnished article is rather good don't you think?"

    my ar*e

  • rate this

    Comment number 88.

    @80 Emma L
    None at all please. We have the so called NHS because access to healthcare is meant to be a right for everyone, so there should be no healthcare industry. Pharma companies earn big bucks from OUR pockets and in return they spend a tiny proportion of their earnings on research. If the healthcare service was truly nationalised then we wouldn't be paying to put money in their pockets.


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