Last year was a brilliantly remarkable year of breakthroughs for medical science, from the speedy development of gene-silencing drugs to a brain implant that can turn thoughts into speech. In this article we look at a few of the most interesting innovations from 2019.
Kill the messenger…
Gene-silencing drugs are a new class of medicine that have shown to be able to reverse formerly untreatable diseases. 2019 marked the year that these drugs made they way into the NHS. The drugs are being used to reverse Amyloidosis, a disease that causes nerve and organ damage.
There are different forms on Amyloidosis, one being Transthyretin-Mediated Amyloidosis. Patients who have this form have a ‘rogue gene’ that causes a build-up of Transthyretin, a toxic protein, in their bodies. This protein is made by the liver and causes damage to organs and nerves. The treatment works by targeting a patient’s RNA silencing the rogue Transthyretin gene which lowers the toxic protein levels in their body.
A drug that could potentially slow dementia?
Last year, Biogen, a US drug company, announced that they had created the first treatment that could slow down the onset of the symptoms of Alzheimer’s. At the time there were no other drugs that could do this, just ones that can help with the symptoms.
Biogen still need to file all the necessary paperwork to seek regulatory approval, both in the US and Europe for the drug they have named Aducanumab. The approval processes could take around 1 – 2 years and if they are successful the drug will principally be offered to patients that have previously been registered in clinical studies of the drug.
Prof Bart De Strooper, Director of the UK Dementia Research Institute at University College London, said: "It is fantastic to hear of these new positive results emerging from the aducanumab trials. We currently have no effective treatments to slow or halt the progression of Alzheimer's disease and I hope this signifies a turning point."
Turning thoughts into speech
Scientists at the University of California, in San Francisco have developed a brain implant that can turn people’s thoughts into speech. The technology works in two stages. The first being to implant an electrode into the patient’s brain to pick up the electrical signals that move the lips, tongue, voice box and jaw. The second stage uses powerful computing to simulate how movements in the mouth and throat would create various sounds. The results of the above result in synthesised speech coming out of a ‘virtual vocal tract’.
With it being a fairly new technology, it isn’t perfect…yet. Experiments were initially conducted with five people who were asked to read hundreds of sentences, of which listeners were able to understand what was being said up to 70% of the time.
This technological advancement could help lots of people that have suffered from a loss of speech including people with brain injuries, motor neurone disease and throat cancer.
A unique drug made for an 8-year old girl with Batten disease
Batten disease is an extremely rare disease that stops cells being able to break down and recycle waste therefore causing build up which can lead to the death of brain cells. One patient with the disease is 8-year old, Mila Makovec, who was three when she began to show symptoms of the genetic disease.
By analysing Mila’s DNA, researchers found a small unique mutation that was causing the disease, were able to design a drug to improve Mila’s life and won approval from the FDA to use it all within a year. It usually takes around 15 years for a drug to get from the lab and get to patients due to the clinical trials that are needed, so to get there in a year is an amazing feat.
Mila isn’t cured of the disease, however the seizures that she suffers from on a daily basis has reduced from 15 – 30, usually lasting around two minutes each, to 0 – 20, largely lasting just a few seconds.