Health: The year’s big breakthroughs | Sunday Observer

Health: The year’s big breakthroughs

It has been a remarkable year of promise in medical science - from inventing ways of treating the untreatable to reversing paralysis and keeping the brain alive after death.

“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.

Gene-silencing drugs

A new class of medicine - called gene silencing - has shown its ability to reverse previously untreatable diseases.

A gene is part of our DNA that contains the blueprint for making proteins, such as hormones, enzymes or raw building materials.

But our DNA is locked away inside a cell’s nucleus and kept apart from a cell’s protein-making factories.

So our bodies use a short strand of genetic code, called messenger RNA, to bridge the gap and carry the instructions.

Gene-silencing drugs kill the messenger.

Sue Burrell no longer has bouts of severe pain caused by her acute intermittent porphyria.

And Vincent and Neil Nicholas are both taking gene silencing medicines for a disease called amyloidosis. Viruses to the rescue

Isabelle Carnell Holdaway’s life was saved by an experimental cocktail of viruses.

The teenager’s body was being attacked by deadly and seemingly untreatable bacteria and she was given less than a 1% chance of survival.

She had big, black, festering lesions forming on her skin where the infection was taking hold.

And she ended up in intensive care when her liver started failing, with large colonies of bacteria forming in her body. But doctors at Great Ormond Street Hospital attempted an untested “phage therapy”, which uses viruses to infect and kill bacteria. Phage-therapy never became mainstream medicine and the field was eclipsed by the discovery of antibiotics, which are much easier to use.

But now phage-therapy is having a resurgence due to the rise of superbugs that are resistant to antibiotics.

Isabelle’s case could be the first of many. Separating twins

One of our most followed stories of the year was the separation of two conjoined twins.

Safa and Marwa were born joined at the skull and they had never been able to see each other’s faces.

There are no official figures for how often this happens, but one estimate says craniopagus conjoined twins are born once in every 2.5 million births.

Most do not live longer than a day.

To separate them required multiple surgeries, months of hard work and the expertise of hundreds of hospital workers. A new tool to manipulate DNA

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). Giving people a voice again

-James Gallagher