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
With so many costumes adorning this election season, you might think the Halloween get-ups are overkill. Think again, because David Ng and B.R. Cohen are here to present the official universal survey about your candy favorites for the 2016 hierarchical delineation of candy virtue.
University of Zurich researchers used transcranial magnetic stimulation, a noninvasive method of inhibiting activity in parts of the brain, to “turn off” people’s ability to control their impulses. They focused on the temporoparietal junction, an area of the brain thought to play an important role in moral decisions, empathy, and other social interactions. They hope […]
Are you jonesing for a dose of optimism and possibility? In the mood to contemplate the cosmos? Want to experience a musical message for extraterrestrials the way it was meant to be played? The Voyager Golden Record: 40th Anniversary Edition, a project I launched with Timothy Daly and Lawrence Azerrad, is a lavish vinyl box […]
Geek Fuel is a subscription delivery service that caters to those of us that love comics, gaming, and general geek culture. Every month, Geek Fuel will assemble a box of goodies with a value of $50 or over. The specific items are a mystery, but you’ll always get an exclusive t-shirt not found anywhere else, a full […]
If you like to DIY and you like helicopters, you’re going to really love the Flexbot Hexacopter Kit. This copter blows traditional models out of the water: it includes everything you need to actually build your own hexacopter, and then pilot it like a pro, too.The construction is complicated enough to give you a challenge, […]
This week’s top deals from the Boing Boing Store range from lobster to wine to desk organization. 1. Get Maine Lobster (50% Off)With these discounted packages from Get Maine Lobster, you can experience the sweet, fresh flavor of world-renowned Maine lobster right at your own dinner table. There are four options to choose from, each at […]