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Gene-silencing: ‘New class’ of medicine reverses disease porphyria

Doctors have used a new type of medicine called “gene silencing” to reverse a disease that leaves pe..

Doctors have used a new type of medicine called "gene silencing" to reverse a disease that leaves people in crippling pain.

The condition, acute intermittent porphyria, also causes paralysis and is fatal in some cases.

The novel approach fine-tunes the genetic instructions locked in our DNA.

Doctors say they are "genuinely surprised" how successful it is and that the same approach could be used in previously untreatable diseases.

How bad is porphyria?

Sue Burrell, from Norfolk, has endured pain few could imagine and needed to take strong opioid painkillers every day.

At one point her porphyria was causing severe attacks every couple of weeks and needed hospital treatment.

But even then morphine did not stop the pain.

She told the BBC it was worse than child-birth, saying: "It's so intense – so strong it's in your legs, in your back, and it just resonates everywhere. It's really, really unbearable."

Her sister was affected even more severely and was completely paralysed in hospital for two years.

What is porphyria?

There are several types of porphyria, but each is caused by the body being unable to produce enough of a substance called haem.

Haem is a key component of the haemoglobin in red blood cells that transport oxygen around the body.

Problems in the body's haem manufacturing process can lead to a build up of toxic proteins.

These cause the attacks of physical pain in Sue's form of the disease. In other porphyrias the proteins can cause skin problems.

There is some speculation King George III had porphyria.

But the new treatment worked?

Sue was one of the patients on the trial and is now taking the drug.

She says her life has been transformed.

"I've had pain for 10 years, I didn't expect that could go away. I'm seeing friends and they're [asking] 'you're not taking any painkillers?' and I was [saying] 'no!'."

A clinical trial on 94 people across 18 countries was presented at the International Liver Congress in Vienna.

The therapy cut the number of severe attacks by 74%.

And 50% of patients were completely clear of attacks that needed hospital treatment, compared to 16% given a dummy treatment.

One person dropped out of the study due to side effects.

So how does it work?

The treatment uses an approach called gene silencing.

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.

This drug, called givosiran, kills the messenger in a process known as RNA interference.

In acute intermittent porphyria it lowers the levels of an enzyme involved in haem production and prevents the build-up of toxic proteins.

Is this a big deal?

Prof David Rees, from King's College London, treated patients taking part in the trial in the UK.

He told the BBC: "This is a really important treatment – it's innovative. Porphyria is one of the first conditions it has been used in successfully.

"I'm genuinely surprised how well it works in this condition and I think it offers a lot of hope for the future."

Could this treat other diseases?

Potentially yes, but it is still very early days.

Gene silencing has been used to treat a genetic disease that causes nerve damage and the US Food and Drug Administration said such medicines "have the potential to transform medicine".

A similar approach is also being investigated in Huntington's disease, which is caused by a toxic protein that kills brain cells.

Researchers are also looking into it as an alternative to statins for lowering cholesterol.

Barry Greene, the president of Alnylam, which developed the porphyria drug, told the BBC the latest findings were "heralding a brand new class of medicine".

Are people excited?

The field of gene silencing has been around for a long time.

The Nobel Prize in Physiology or Medicine in 2006 went to the researchers who discovered RNA interference, which occurs naturally in our cells.

But the field is now getting to the point where it can be harnessed to help some patients.

Dr Alena Pance, from the Wellcome SangerRead More – Source

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‘Exhilarating’ implant turns thoughts to speech

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

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

The team at the University of California, San Francisco says the technology is "exhilarating".

They add that their findings, published in the journal Nature, could help people when disease robs them of their ability to talk.

Experts said the findings were compelling and offered hope of restoring speech.

How does it work?

The mind-reading technology works in two stages.

First an electrode is implanted in the brain to pick up the electrical signals that manoeuvre 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 synthesised speech coming out of a "virtual vocal tract".

Why do it like that?

You might think it would be easier to scour the brain for the pattern of electrical signals that code for each word.

However, attempts to do so have only had limited success. (more…)

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Measles: Half a million UK children missed jab

More than half a million children in the UK were not given a crucial measles jab between 2010 and 20..

More than half a million children in the UK were not given a crucial measles jab between 2010 and 2017, an analysis by children's charity Unicef reveals.

It comes as NHS chief Simon Stevens warned measles cases had almost quadrupled in England in just one year and urged families to get the vaccine.

He said people rejecting vaccines was a "growing public health time bomb".

Globally, the report shows, 169 million children were not given a first dose of measles vaccine between 2010 and 2017.

'Alarming'

Measles is a highly infectious viral illness that can lead to serious health complications – including infections of the lungs and brain – and is sometimes fatal.

Health experts say children should have two doses of the vaccine to fully protect against the disease.

But, according to Unicef, a mixture of complacency, misinformation, scepticism about immunisations, and a lack of access to jabs has led to inadequate vaccination rates globally.

The report shows that between 2010 and 2017:

  • The US topped the list for the number of unvaccinated children in high-income countries, with 2,593,000 missing the first dose of the vaccine
  • The comparable figure for France was 600,000
  • The UK came third, with 527,000 children not getting their first dose of the vaccine over the seven-year period
  • In Nigeria, four million children under one did not get the first dose of the vaccine

Figures for the second dose of the measles vaccine "were even more alarming", Unicef said.

It found 20 countries in sub-Saharan Africa had not introduced a second dose, putting more than 17 million infants a year at a greater risk of getting measles as a child. (more…)

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No sedentary screen time for babies, WHO says

Babies and toddlers should not be left to passively watch TV or other screens, according to new Worl..

Babies and toddlers should not be left to passively watch TV or other screens, according to new World Health Organization guidelines.

Sedentary screen time, including computer games, should not happen before a child is two, the WHO says.

The limit for two- to four-year-olds is an hour a day and less is better.

The UK has no plans to update its own advice on screen use, which sets no time limits, although it says children should avoid screens before bedtime.

The UK's Royal College of Paediatrics and Child Health insists there is little evidence screen use for children is harmful in itself.

The new WHO advice focuses on passive viewing – youngsters being placed in front of a TV or computer screen or handed a tablet or mobile phone for entertainment – and is aimed at tackling child inactivity, a leading risk factor for global mortality and obesity-related ill health.

It is the first time the WHO has made recommendations on physical activity, sedentary behaviour and sleep for children under five.

As well as warning against passive screen time, it says babies should not spend longer than an hour at a time strapped into a buggy, car seat or sling.

The guidelines will be presented at the European Congress on Obesity in Glasgow on Sunday.

The advice

For babies: (more…)

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