Superhumans to the Rescue: DNA Mutations Worth Billions

Steven Pete can put his hand on a hot stove and not feel a thing and Timothy Dreyer can walk away from a bad car accident without a single broken bone. These “superhumans” are sought-after by drug companies like Genentech and Amgen since only a few people have a congenital insensitivity to pain and only about 100 have sclerosteosis, a condition that produces extremely dense bones. Researching their extremely uncommon DNA mutations could produce drugs for the industry’s most lucrative markets. Research into these genetic irregularities is advancing quickly since the painkiller market alone is worth $18 billion a year.

After more than 3 years of research on sclerosteosis, NASA invited Amgen to test romosozumab, a drug that stop the loss of bone mass often seen during spaceflight. After 13 days on the Atlantis shuttle, mice injected with romosozumab had gained bone mineral density while the control group’s bones weakened. Results of human trials are expected in early 2016 and once the drug is approved, it could bring Amgen $1-2 billion in sales per year.

Genentech is collaborating with Silicon Valley start-up 23andMe, which has sold over a million DNA spit kits costing $99 to consumers wanting to find out more about their health and family history. More than 80% have agreed to allow their data to be used for research especially on Parkinson’s disease. From 1990 to 2003, it took $3 billion and 13 years to sequence the first human genome. The cost today is as low as $1,000 per patient, making it exceptionally viable to discover relationships between genes and symptoms.

Xenon Pharmaceuticals, a small Canadian biotech company, tracked down the gene responsible for pain-free traits after a decade of research. The gene regulates a pathway in the body called the Nav 1.7 sodium ion channel and understanding it more could create an entirely new class of painkillers without addictive or ineffective qualities. While these “superhumans” offer cures to the rest of humanity, there is no profit motive to find treatments for their abnormal pain. But thanks to them, companies like Genentech and Amgen are studying their rare gene mutations to mimic their mutations and create blockbuster drugs for pain or osteoporosis.

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Alison Killian is a recent graduate of Grove City College who majored in Business Management and minored in Biology Studies. She is a contributor to Medical Groups and passionate about all facets of healthcare. She plans on continuing work in the healthcare field especially in management. She is very interested in healthcare innovation and finding ways to improve the current system. She hopes to go back to school in a few years to earn a degree in medicine.