‘A gift from nature’ could be worth billions of dollars to drug companies.
By Raif Karerat
WASHINGTON, DC: While audiences around the world are flocking to movie theaters to see superhero flicks such as “The Avengers: Age of Ultron” and “Ant-Man,” many may not be aware that real super humans already walk among us.
According to Bloomberg, Steven Pete can put his hand on a hot stove or step on a piece of glass and not feel a thing, all because of a rare mutation in his genes that makes him impervious to pain, while Timothy Dreyer has bones that are so dense he can walk away from accidents that would leave anyone else with crushed limbs. Only about 100 people have sclerosteosis, Dreyer’s condition.
Drugmakers are eager to investigate the natural, genetic mutations that have bestowed the two men with seemingly superhuman abilities.
Dreyer and Pete are “a gift from nature,” said Andreas Grauer, global development lead for a osteoporosis drug that pharmaceutical company Amgen is creating. “It is our obligation to turn it into something useful,” she emphasized.
Amgen realized that if researchers could mimic the effects of Dreyer genetic mutation, they could encourage bone growth strong enough to counter osteoporosis.
Amgen has run two human trials since 2006. It is conducting two final-stage trials, with the first batch of results expected in early 2016. If the drug performs to expectations, it could bring Amgen $1 billion to $2 billion in sales per year, Cowen Group analyst Eric Schmidt told Bloomberg.
Meanwhile, Xenon Pharmaceuticals, a small Canadian biotech firm, is currently researching an entirely new class of painkiller based on the genetic traits that grant Pete his invulnerability to physical discomfort.
The company has isolated the gene responsible, which regulates a pathway in the body called the Nav 1.7 sodium ion channel.
“The beauty of the phenotype is that you’re largely normal,” said Morgan Sheng, Genentech’s vice president for neuroscience, referring to how the genes are manifested in an individual. “You want to just prevent pain and not cause a bunch of other problems,” he says. The only other effect typically seen is a loss of the sense of smell.
The overarching ramifications for medical treatments that stem from mutations such as those found in Pete and Dreyer may one day present humanity with an incredible boon. However, the pain — be it physical or emotional — that genetic outliers must endure should not be discounted.
Pete’s left leg is permanently damaged from years of injuries he couldn’t feel, and he lives with the anxiety that he could overlook a severe illness, such as appendicitis, whose major symptom is pain, according to Bloomberg, while excessive bone growth in Dreyer’s skull has exerted so much pressure on his cranial nerves and brain that multiple surgeries were unable to save his hearing.
Dreyer, a Ph.D. student in paraclinical science at the University of Pretoria is currently researching treatments for his own disease and hopes to raise 2 million rand ($162,000) to fund his work. “There are thousands of people suffering from osteoporosis, so developing a treatment for them is great,” he says. “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.”