The biggest medical breakthroughs of 2019

“It was like [being the] first man on the Moon,” said 30-year-old Thibault. He was describing the moment he was able to take his first steps since being paralysed in a fall two years ago. He can now move all four of his paralysed limbs with a mind-controlled exoskeleton suit. His movements, particularly walking, are far from perfect and the robo-suit is being used only in the lab. But researchers say the approach could one day improve patients’ quality of life.

Mila Makovec’s doctors have performed a seemingly impossible feat - a girl with a deadly brain disease has been given a unique drug that was invented from scratch just for her and all in less than a year. She was diagnosed with fatal and untreatable Batten disease. The eight-year-old’s medical team in Boston performed whole-genome sequencing - a detailed interrogation - on Mila’s DNA, her genetic code, and uncovered a unique mutation that was causing her disease.
Having seen the fault, the researchers thought it might be possible to treat it. They designed a drug, tested it on Mila’s cells and on animals in the laboratory and won approval to use it from the US Food and Drug Administration. Drugs normally take about a decade and a half to get from the laboratory, go through clinical trials and get to patients.
The US team got there in a year.

A new way of editing the code of life could correct 89% of the errors in DNA that cause disease. The technology, called prime editing, has been described as a “genetic word processor” able to accurately re-write the genetic code. It is a bit like pressing Ctrl-F to find the bit of text you want to change, then pressing Ctrl-C and Ctrl-V to copy over the new text (or the command key if you’re a Mac user). There are some 75,000 different mutations that can cause disease in people and the researchers say prime editing can fix nearly nine in 10 of them. It has already been used to correct damaging mutations in the lab, including those that cause sickle cell anaemia and Tay-Sachs disease (a rare and fatal nerve condition)