News ID: 263740
Published: 1228 GMT December 31, 2019

The biggest medical breakthrough of 2019

The biggest medical breakthrough of 2019
Thibault was able to move his arms and legs when in the exoskeleton

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, BBC reported.

He was describing the moment he was able to take his first steps since being paralyzed in a fall two years ago.

He can now move all four of his paralyzed 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.

Patients in Australia can now feed themselves, put on make-up, turn a key, handle money and type at a computer.


A unique drug made for just one girl with unprecedented speed


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.

Mila is now having far fewer seizures, although she is not cured.


Gene-silencing drugs arrive


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.


A new approach to cancer


Charlotte Stevenson, a two-year-old from Belfast, was one of the first patients to benefit from a ‘revolutionary’ new class of cancer drugs.

Tumor-agnostic drugs do not care where the cancer is growing in the body as long as it has a specific genetic abnormality inside.

The first, called larotrectinib, has been approved for use across Europe.

It is designed to target tumors with a genetic abnormality known as an NTRK gene fusion.

They can be found in Charlotte's sarcoma as well as some brain, kidney, thyroid and other cancers.

Cancer immunotherapy has reached a huge milestone.


A first drug to slow dementia?


A US pharmaceutical company said it has developed the first drug to slow Alzheimer's disease.

The drug, called aducanumab, is an antibody that clears toxic proteins that build up in the brain.

The announcement in October was a massive surprise, as the firm Biogen had written off the drug in only March this year.


A new type of dementia


Meanwhile, experts think they have found a new form of dementia and millions may have been wrongly diagnosed.

Dementia is a symptom found in many diseases of the brain and memory loss is the most common feature.

Alzheimer's disease is the most common form of dementia and others include vascular dementia, dementia with Lewy bodies, fronto-temporal dementia, Parkinson's disease dementia, amyotrophic lateral sclerosis.


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 said 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 percent 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 anemia and Tay-Sachs disease (a rare and fatal nerve condition).


Giving people a voice again


Scientists have developed a brain implant that can read people's minds and turn their thoughts to speech.

First an electrode is implanted in the brain to pick up the electrical signals that maneuver the lips, tongue, voice box and jaw.

Then powerful computing is used to simulate how the movements in the mouth and throat would form different sounds.

This results in synthesized speech coming out of a "virtual vocal tract".

It is not perfect.

If you listen to this recording of synthesized speech:

You can tell it is not crystal clear (the recording says "the proof you are seeking is not available in books").

The team at the University of California, San Francisco says the technology could help people when disease robs them of their ability to talk.

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