In The Atlantic, science writer extraordinaire Carl Zimmer wrote a fascinating long article about fibrodysplasia ossificans progressiva (FOP), a rare medical disorder in which the sufferer grows a second skeleton. (Above, the skeleton of FOP-sufferer Harry Raymond Eastlack, on display at the Mütter Museum.)
Beyond a tale of medical curiosity, it's a genetic detective story that says a lot about the study of rare diseases. From The Atlantic:
A rare disease is defined as any condition affecting fewer than 200,000 patients in the United States. More than 7,000 such diseases exist, afflicting a total of 25 million to 30 million Americans.
The symptoms of these diseases may differ, but the people who suffer from them share many experiences. Rare diseases frequently go undiagnosed, or misdiagnosed, for years. Once people do find out that they suffer from a rare disease, many discover that medicine cannot help them. Not only is there no drug to prescribe, but in many cases, scientists have little idea of the underlying cause of the disease. And until recently, people with rare diseases had little reason to hope this would change. The medical-research establishment treated them as a lost cause, funneling resources to more-common ailments like cancer and heart disease.
"The Girl Who Turned to Bone
More than 800 American energy and Earth science researchers have signed a letter to Donald Trump outlining six steps they’re urging him to take to address human-caused climate change to protect “America’s economy, national security, and public health and safety.” The letter is accompanied by a public change.org petition to “Tell Trump To #ActOnClimate.” Here […]
James Delingpole is an invective-hurling anti-climate science columnist who has candidly admitted that he doesn’t bother to read scientific papers, calling himself a “an interpreter of interpretations.”
Kratom (previously) is a widely used herb that has been very effective in treating opioid withdrawal and other chronic, hard-to-treat conditions — it also became very controversial this year because the DEA decided, without evidence, to class it as a dangerous drug, and then changed its mind (unprecedented!) after a mass-scale petition that included interventions […]
Unlike traditional lighters, the SaberLight features an electronic plasma beam that’s both rechargeable and butane-free. This sleek lighter is even approved by TSA, so you’ll never be stuck buying lighters you’ll just have to throw away partially used. For some people, like me, this is a pretty big game-changer. The SaberLight’s beam is actually both hotter and cleaner […]
Holiday shopping is in full swing, and the Striiv Touch is one of the best gift ideas I’ve landed on. Its simple design works for females and males, and its wide range of features makes it suitable for even the non-fitness enthusiasts in your life.Unlike traditional fitness trackers, the Striiv Touch also acts as a smartwatch. It […]
The Pocket Tripod PRO had massive Kickstarter success in 2013, raising almost $85,000 in a single month. But this isn’t just another case of pre-release product hype. This ingenious little device folds out from a credit-card-shaped plastic slab into a sturdy stand with a surprisingly wide range of motion. In portrait orientation, your phone slides […]