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
Yup. He really did.
In the NASA image above, today’s total solar eclipse is seen above Madras, Oregon. Photo by Aubrey Gemignani for NASA. Below, our moon blocks out the sun during the solar eclipse in Depoe Bay, Oregon.
Today marks the 40th anniversary of the launch of Voyager 2, the first of the two spacecraft that carried the Golden Record on a grand tour of the solar system and into the mysteries of interstellar space. Science journalist Timothy Ferris produced this enchanting phonograph record that tells a story of our planet expressed in […]
Toaster ovens are the perfect appliance for small things like toasted sandwiches and roasted garlic (try it!), but anything more involved usually requires a full-sized conventional oven.However, despite its small size, the Wolfgang Puck Pressure Oven can handle anything from baked pastries to broiled meats. This kitchen appliance has a minimal countertop footprint, and cooks […]
The Pry.Me Bottle Opener holds tens of thousands of times its own weight, and you can pick one up now from the Boing Boing Store.This remarkable keychain is considerably smaller than any of your keys, but don’t let that fool you: it can easily open any bottle, and could even tow a trailer full of […]
Guaranteeing your privacy online goes way beyond checking the “Do Not Track” option in your browser’s settings. To ensure that your internet activity is totally hidden from Internet Service Providers, advertisers, and other prying eyes, take a look at Windscribe’s VPN protection. It usually costs $7.50 per month, but you can get a 3-year subscription […]