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
Since its publication in late 2015, science writer Oliver Morton’s The Planet Remade: How Geoengineering Could Change the World has swept many “best book” (best science book, best business book, best nonfiction book) and with good reason: though it weighs in at a hefty 440 pages and covers a broad scientific, political and technological territory, few science books are more important, timely and beautifully written.
After years of speculation and wrangling over his remains, Kennewick Man turns out to be closely related to contemporary, local Native Americans after all. Discovered near Kennewick, Wash., in 1996, the skeleton ended up in a tug of war between tribes in the pacific northwest who wanted to bury the remains, and scientists who wanted […]
Our solar system is awesome.
Why buy one of those expensive and confusing universal remotes, clogged with enough buttons to launch a space shuttle, when you could accomplish the same electronic control right on your favorite mobile device? The Blumoo Universal Remote, now just $52.99 in the Boing Boing Store, harnesses the audio power of all your household equipment right […]
You may not love Microsoft Word, but you’ve definitely used it. Other than being one of the most ubiquitous programs on the planet, it’s been the go-to word processing system for more than a quarter-century because it’s as basic as it gets. But occasionally, you’ve got assignments that beg for a lot more options than simple […]
Almost everyone has their smartphone in a case of one kind or another. Beyond simple protection, finding a case that can charge your phone on its own, but doesn’t feel like it’s also adding a couple pounds to the phone’s weight is the tricky part. Billed as the world’s thinnest battery case, the ThinCharge iPhone […]