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Daring to hope

Science

Patients thrill to reports of a promising antisense drug against Huntington disease, but no one is sure yet whether it works. Dardengo's father, shown holding her son Joel in a 1989 photo, died of Huntington disease. Michelle Dardengo walks her dog near her home in Coquitlam, Canada. The dark shadow of Huntington disease fell squarely over Michelle Dardengo's life on the day in 1986 that her 52-year-old father was found floating in the river in Tahsis, the remote Vancouver Island mill town where she grew up. Richard Varney had left his wedding ring, watch, and wallet on the bathroom counter; ridden his bike to a bridge that spans the rocky river; and jumped. The 4.5-meter drop broke his pelvis. The town doctor happened to be fishing below and pulled Varney out as he floated downstream, saving his life. The once funny man who read the Encyclopedia Britannica for pleasure; the good dancer who loved ABBA, the Three Tenors, and AC/DC; the affable volunteer firefighter--that man was disappearing. He was being replaced by an erratic, raging misanthrope wedded to 40-ounce bottles of Bacardi whose legs would not stay still when he reclined in his La-Z-Boy.



Huntington's breakthrough may stop disease

BBC News

The defect that causes the neurodegenerative disease Huntington's has been corrected in patients for the first time, the BBC has learned.


Top 10 Most Popular #Digitalhealth Stories of 2016 - The Medical Futurist

#artificialintelligence

Here are the stories of 2016 about the future of medicine and healthcare you liked the most so far. At Vanderbilt University, scientists are building an artificial kidney that they envision will one day will be a standard of care over dialysis. The end result is expected to be a microchip about the size of a natural kidney, small enough to be implantable and powered by the body's own blood flow. A Dutch clinic had their first paralyzed patient walk home in an exoskeleton. The heart-warming event followed an 8 weeks-long training program designed by the clinic, during which the patient has trained with the ReWalk 6.0 exoskeleton to regain their movement.


One woman's race to defuse the genetic time-bomb in her genes

MIT Technology Review

In 2011, Sonia Vallabh was handed a genetic report that contained a death sentence. But it also held a map for how to escape. Her body, she learned, harbored a gene mutation, a single wrong letter of DNA in her "prion" gene, that would eventually lead to a rare brain condition called fatal familial insomnia. Her mother had died of it the year before, and the test had revealed Vallabh had inherited the flaw too. After the diagnosis of the genetic time bomb, they dropped out of their careers in law and engineering and became scientists dedicated to defusing it.