So much for ‘junk’ DNA

Modern Healthcare - - OUTLIERS ASIDES & INSIDES -

The full se­quence of the hu­man genome—some 3 bil­lion base pairs, in­clud­ing 20,500 genes—was pub­lished in April 2003. Yet nearly 10 years on, we have yet to see ev­i­dence of any avalanche of new drugs that can cap­i­tal­ize on that knowl­edge and specif­i­cally in­ter­act with DNA at the molec­u­lar level.

Last week, the global sci­en­tific community found out why: DNA is even more com­pli­cated than we thought it was. A lot more.

Sci­en­tists were sur­prised to learn 10 years ago that less than 2% of the hu­man genome held the genes that con­tain in­struc­tions for cre­at­ing the pro­teins that form the body’s tis­sues. The other 98% seemed to be use­less.

But a sur­feit of stud­ies pub­lished last week in Na­ture and other jour­nals found that much of this so-called junk DNA ac­tu­ally serves to reg­u­late when the 20,500 genes ac­ti­vate.

Re­ports in Bloomberg and the Wash­ing­ton Post ex­plained how re­searchers have found at least 4 mil­lion ge­netic “switches” that play im­por­tant un­der­ly­ing roles de­ter­min­ing how and when genes op­er­ate, and more of these switches are expected to be dis­cov­ered in com­ing years. Un­rav­el­ing those ge­netic tools is the mis­sion of En­core, an in­ter­na­tional con­sor­tium of re­searchers.

“What I am sure of is that this is the sci­ence for this cen­tury,” Ewan Bir­ney of the Euro­pean Bioin­for­mat­ics In­sti­tute in Eng­land told the Wash­ing­ton Post. “In this cen­tury we will be work­ing out how hu­mans are made from this in­struc­tion man­ual.”

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