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 287.

    Knowledge is good but the use of it is prone to interference by profit and politic. Research for the sake of research these days is rare and big business controls what will go into 'production' and to whom it will be sold when available. Something for the good of mankind is tempered by who will get the most gain from it. Depressing.

  • rate this

    Comment number 286.


    No creation - just loads of time.

  • rate this

    Comment number 285.

    Personally I think creationism and science aren’t opposing views, if you try to understand even a tiny part of how the world works you have far more respect for whomever or whatever may have created it. Opposing evolution and knowledge in favour of a god who basically waves a wand to make everything appear is comparable to looking at the Mona Lisa and seeing no more effort than paint by number.

  • rate this

    Comment number 284.

    "More compelling evidence for intelligent design!"

    Rather than just skimming an article on here and proclaiming "God did it!", why don't you read the numerous open papers ENCODE have published (don't worry, there's a nice link in the article to click on). It's fascinating stuff and packed with evolutionary wonders.

  • rate this

    Comment number 283.

    Its all very well using the advances in science to prove/disprove the existence of friends, relatives, creators etc. a more pressing issue is who is going to stop the pharmaceutical giants from patenting my dna so that they can charge ludicrous amounts of money to make me better at 130 years old just because they can!!!!!!

  • rate this

    Comment number 282.

    Can't we have one discussion about applied sciences without someone bringing their imaginary friends into it?

    How have we not moved past such nonsense in the 21st century?

    Whine and complain all you like, but when genetic research is curing your cancer, thank the people who researched it.

    Not the God who punishes learning in chapter 1.

  • rate this

    Comment number 281.

    I think readers you will find, that if you look closely enough at dna you will realise its just remote controll inputs for aliens to controll us. Its cleverly hidden but its there.

  • rate this

    Comment number 280.

    "If you use real testable, falsifiable evidence, you find that creationism/intelligent design fall flat on their faces."

    This is the highest rated comment!?
    All your saying is that intelligent design can't be proven - hardly the next Aristotle!
    (Just so you know science can't be proven either).

  • rate this

    Comment number 279.

    #274 beebalert

    You are simply misreading my post. I am a scientist, and have quite extensive understanding of genetic computing and thus of evolution. Evolution works by creating children through genetic processes then puts them through filters that test and kill most of them & repeating.
    Look for human philosophies that advocate that and you find Eugenics, Nazism, Spartanism, Capitalism, etc.

  • rate this

    Comment number 278.

    The trouble with imortality is that we'd have to give up having children. If people aren't moving out, there'll be no room for kids to move in. Even with high levels of mortailty, some areas already can't support their populations.
    On the other hand, dealing with inherited ailments can only be a good thing.
    Why would cells waste energy making "junk DNA"? If not needed, it would have died out.

  • rate this

    Comment number 277.

    262.sayitso - "..........When will all this science start to heal us ....."

    It already is, for the vast majority of conditions....very few treatments/diagnostics techiques in modern medicine were around before medical science got in on the act.

    Can we cure everything? No, but we can cure a huge swathe of illnesses......

  • rate this

    Comment number 276.

    @ mrjohnno 243: "How do we know the Bible is true I hear you say... Because the Bible says the Bible is true duh!" No, because there are ways of testing many of its claims. My contention is that the Bible (properly understood) and science (properly understood) shouldn't have to contradict. The problem is when both sides make it an either/or argument.

  • rate this

    Comment number 275.

    261.I-was-ok-once - ".....Thalidamide, mono-culture crops, DDT in carpet cleaners, introducing foreign predators to knock out pests..."

    Done by multinational corporations profiteering at the expense of the public, hence why big business needs close's not the fault of scientists that those scandals happened.......

  • rate this

    Comment number 274.

    Your assertion that any philosophy or branch of science with the ability to improve mankind is automatically "Nazism" is hysterical nonsense that we should all be laughing at.

    Try following your ideas to their natural conclusion and shutting down all scientific enquirey. Forget striving to better ourselves either, that's for nazis so we can tell that to the gold medalists at the olympics

  • rate this

    Comment number 273.

    5th September 2012 - 19:41

    "Where are all the fancy treatments we've been promissed, or is this a case of scientists over-egging the significance of these findings"

    If all the money poured into the grossly overpaid and overfunded Arts world was put into Science then you probably would have your fancy treatments a lot sooner.

  • Comment number 272.

    This comment was removed because the moderators found it broke the house rules. Explain.

  • rate this

    Comment number 271.

    People should avoid mixing fact with belief .

  • rate this

    Comment number 270.

    This article proves how great god is that he was able to create such a complicated DNA

  • rate this

    Comment number 269.

    How wonderful this is! ..... .. .and more to come. I will never understand it all, but new generations of other nurses may be giving better and more knowledgeable treatments. Great news.

  • rate this

    Comment number 268.

    Biblical values has its own phases like any Holy books Please don't mix religion to science. Scientists can have religion but their inventions will never have any religious aspect/value. Please don't mix religion to science. Guys excellent work in Genome science. Waiting for more updates. I have reached till Our great grandma who was in Africa.


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