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 47.

    There is way too much emphasis put on genetics. We also need to look at cortisol's role and it's ability to turn genes off and on, interrupt cell reproduction and interfere with the immune system. Cortisol is the real enemy we face in the fight against many diseases that we face today.

  • rate this

    Comment number 46.

    As a father and a husband of a boy with a genetic condition carried by by the female line to boy meaning my wife feels guilt for something she did not know about and a farther to a boy with a condition this is great news refer the god squad to me I am willing to have a word

  • rate this

    Comment number 45.

    Have they been able to determine the genome of God?

  • rate this

    Comment number 44.

    They are what us,you,we are.Its almost a miniture space race or it should be?

  • rate this

    Comment number 43.

    It's quite amazing how much progress has been made in the area of genetics over the past 20 years. Advances are being made on a daily basis. Within the next 10 years I'm optimistic about each person having their individual genome sequenced to check for susceptibilites to heart disease, schizophrenia etc.

    What a huge leap forward that would be!

  • rate this

    Comment number 42.

    it's truly wonderful to be able to envisage that these super intelligent Dr Frankensteins will one day be able to make me perfect in my next lifetime by inserting complex chemical amino acid soups with a needle, so I don't have to worry about being the progeny of mutant ninja turtles with no sense of humour. I hope they'll be as fast acting as aspirin - can't bear the thought of waiting, Jesus no!

  • rate this

    Comment number 41.

    Brilliant we should be proud of Cambridge University and those who have completed the research - this is what we should be investing in to prevent disease and to devise new treatments.
    Let us celebrate not turn negative as we tend to here for some bizarre reason!?

  • rate this

    Comment number 40.

    14.helo thar

    "I would also hope to see soon genetic manipulation of babies before they are born, thus wiping out hereditary diseases."
    That is assuming genetics are fixed after birth but that is not the case. Or that genetics alone are responsible for hereditary diseases which is also not the case. We also need to look at how environment and experience is also repeated through generations.

  • Comment number 39.

    All this user's posts have been removed.Why?

  • rate this

    Comment number 38.

    Does junk DNA cause obesity?

  • rate this

    Comment number 37.

    29. Osirion
    If I were to be honest I think all Politicians are genetically flawed but some take longer to express there defects than others - sort of like the difference between schizophrenia and cystic fibrosis

  • rate this

    Comment number 36.

    I'm puzzled by how they've managed to work out the function of around 4million gene switches (etc).

    400 scientists, ~10years, that's ~3 functions identified, per day, per scientist, sustained on average over 10 years.

    How can they know the function of a single element in just 8 hours per element? (that assumes the scientists work 24/7!)

    Or is this BBC article over simplifying things a lot?

  • rate this

    Comment number 35.

    At least this is some evolutionary justification for the existence of such 'junk'. If it doesn't do anything to sustain itself, in the long run it will disappear.

  • rate this

    Comment number 34.

    20@name no 6
    Nothing intelligent about your comment. A human being is an incredibly complex organism with a built in healing and repairing system. Do a little study and you will discover just why so many scientists believe it's more than likely that this complexity did not come about through progressive evolution.
    How long do you want to live?

  • rate this

    Comment number 33.

    Where did this writing style originate, where almost every paragraph is one sentence long?

  • rate this

    Comment number 32.

    “could lead to better treatments”... and as if we need reminding... much more effective 'modified' killer viruses and ‘better’ weapons of mass destruction... what a thoroughly exciting prospect!

  • rate this

    Comment number 31.

    15 inchindown

    'Plenty of Breakthroughs in research but precious little in the form of treatment. Its not enough to keep scientists employed ...needs to be more progress on treating disease.'

    Van Leewenhoek discovered bacteria in 1697. Fleming came up with the first viable antibiotic in 1945. Thank goodness the period of research between the two wasn't seen as just keeping scientists employed.

  • rate this

    Comment number 30.

    It`s great that this project is achieving what only a few years ago was thought impossible and bringing hope for future generations to produce medicines that can treat up to now untreatable diseases. Sadly i anticipate major pharmaceutical companies to patent everything in sight and make said medicines only accessible to those who can afford them.

  • rate this

    Comment number 29.

    @ 10 Dave there is a theory that links political beliefs to genetic decent Saying those who are rightwing, trace greater lineage from Cromagnon man, who was a patriarchal sun worshiper, and leftwing have greater lineage from Neandethal who was a matriarchal moon worshiper. It goes on to say we are unstable hybrids, hence our difficulties. V likely bull, but interesting for a labour voter like me;)

  • rate this

    Comment number 28.

    @17-Intelligent design? If someone can create stuff out of thin air in 7 days then why bother having everything follow a pattern using the same 'building blocks' and follow the same physical laws?
    Unless you want people to reverse engineer what you made? So they can play God as well. Maybe he was playing around with Free Source Bioware he downloaded off line?


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