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Companies are studying the DNA of people with rare mutations to create new drugs

THERE are superhumans walking among us with rare genetic mutations that could be worth billions.

While their mutations won’t make them a valid candidate for the X-Men anytime soon, they still play a vital role in helping the human race.

Imagine cutting your finger or putting your hand on top of a hotplate and feeling nothing.

This is the reality for 34-year-old Steven Pete who has a quirk in his genes that makes him immune to feeling pain.

Only a few dozen people on Earth possess this condition, which is why it took doctors months diagnose.

He was just a baby when he almost chewed off his own tongue because he was impervious to the agony a normal child would feel.

“That was a giant red flag,” he told Bloomberg.

After extensive examinations, it was discovered his congenital insensitivity to pain was the result of two mutations that came from each of his parents.

Timothy Dreyer is also blessed with a rare condition that he shares with close to 100 people around the world.

While he can feel pain, the 25-year-old can sustain immense impacts to his body thanks to the density of his bones.

Similar to Mr Pete, his condition was also diagnosed when he was child after his parents took him to the doctor due to a sudden facial paralysis.

Following a series of X-rays, it was revealed he had a condition known as sclerosteosis — a genetic disorder characterised by overgrowth of the bones.


Global development lead for biopharmaceutical company Amgen, Andreas Grauer, said with the industry actively pooling resources for the purpose of researching genetic irregularities, people such as Mr Pete and Mr Dreyer were welcomed subjects.

“[They are] a gift from nature,” he said.

“It is our obligation to turn it into something useful.”

Mr Dreyer’s mutation is of specific interest to Amgen because it has been working hard to find a counter to osteoporosis — a medical condition in which the bones become brittle and fragile from loss of tissue.

Researchers discovered the reason Mr Dreyer has abnormally thick bones is because his body lacks a protein that inhibits the growth.

This got researchers thinking if they created a drug that mimics the protein blocking effect, they would be able encourage bone regrowth for those suffering osteoporosis.

To test the theory, the biopharmaceutical company administered a prototype drug to mice and found it did help gain mineral density in bones.

Since 2006, the company has also been running two human trails with the findings expected to be released next year.


Until then, they will continue to work with the likes of Mr Dreyer to improve on treatment options.

“There are thousands of people suffering from osteoporosis, so developing a treatment for them is great,” Mr Dreyer said.

“That being said, I do think it would be nice if they could help us out now that they understand our disease and are able to use it for their treatments.”

Small Canadian biotech Xenon Pharmaceuticals has been shifting its focus more toward the condition help by Mr Pete.

More than a decade ago, the company tracked down the gene responsible for the mutation and discovered it regulates a pathway in the body called the Nav 1.7 sodium ion channel.

The promise of the research would be to create a new type of painkiller that doesn’t hold the same addictive properties or negative side effects found with other drugs on the market.

While the drug could have massive benefits in pain relief, Mr Pete believes it would have to be properly regulated to avoid complications he has faced in life because of his condition.

Mr Pete admits to living with constant anxiety as he would be unaware of an illness he has contracted if its main symptom is pain.

Despite this, he said is more than happy to offer his body to science.

“Before a lot of us participated in these projects, very little about pain itself was known,” he said.

source articel : www.news.com.au