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