It’s one of the most breath­tak­ing dis­cov­er­ies of all time

Marie Claire (South Africa) - - @WORK -

In 2012, when Kate McMa­hon and her hus­band Tim brought their daugh­ter, Olivia, home from the hos­pi­tal, they knew there was some­thing dif­fer­ent about her. She was lov­ing and sweet, but of­ten un­en­gaged, in her own world. It was hard for her to learn the sim­plest of skills. ‘I knew Olivia’s de­vel­op­ment wasn’t quite right,’ Kate says. ‘Un­til she was one year old, we as­sumed maybe there was some­thing miss­ing but that ev­ery­thing would even­tu­ally fall into place.’ It was only when Olivia had to go to hos­pi­tal be­cause of a lower res­pi­ra­tory tract doc­tors be­gan to sus­pect some­thing else was go­ing on, and re­ferred Tim and Kate to a ge­neti­cist. Olivia was di­ag­nosed with Kleef­s­tra syn­drome, a rare con­di­tion caused by the dele­tion of part or all of a gene. In her case, it was a ge­netic spelling mis­take that oc­curred by chance. The symp­toms vary, but can in­clude de­vel­op­men­tal de­lays, low mus­cle tone and in­tel­lec­tual dis­abil­ity.

Olivia, now three, is al­most walk­ing and knows a hand­ful of words – some­thing only about 50% of peo­ple with Kleef­s­tra will ever achieve. ‘In some ways, Olivia is like most three-year-olds; she loves Peppa Pig and she’s al­ways grab­bing my hand in the mid­dle of the lounge so we can dance to Tay­lor Swift,’ Kate says. ‘But there are a lot of chal­lenges. She gets sen­so­ri­ally over­whelmed is ob­ses­sive-com­pul­sive, and out of rou­tine she can eas­ily go into melt­down. Our fu­ture is un­cer­tain.’

There is no cure for Olivia’s Kleef­s­tra syn­drome, but re­searchers are look­ing into con­di­tion – and that’s how Kate and Tim heard about a rev­o­lu­tion­ary new tool known as t he CRISPR/ Cas Sys­tem. By us­ing CRISPR (clus­tered reg­u­larly in­ter­spaced short palin­dromic re­peats), sci­en­tists can edit DNA, ef­fec­tively chang­ing the hu­man genome to delete dis­ease.

While it was only dis­cov­ered four years ago, it’s al­ready shap­ing up to be one of the most breath­tak­ing dis­cov­er­ies of all time. Not only would it be able to cure Olivia’s Kleef­s­tra, but it could erad­i­cate thou­sands of other dis­eases, in­clud­ing can­cer, autism and HIV. But the power of CRISPR to change DNA has

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