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
Eliza writes, “A researcher from Lehigh University has invented a light-based pacemaker for fruit flies, and says a human version is ‘not impossible.’ The pacemaker relies on the new technique of ‘optogenetics,’ in which light-sensitive proteins are inserted into certain cells, allowing those cells to be activated by pulses of light. Here, the proteins were […]
San Francisco recently doubled the number of walls it was coating with hydrophobic paint, which is supposed to deter wall-pissing by making the urine spray back all over the pee-er.
“A sneezing monkey, a walking fish and a jewel-like snake are just some of a biological treasure trove of over 200 new species discovered in the Eastern Himalayas in recent years,” reports the World Wildlife Foundation today.
You won’t need to think twice about going hands-free on the road with Exomount’s easy-to-use car mount. It mounts your smartphone so easily, you literally only need one hand to quickly secure your phone in the perfect position and get driving. Don’t risk a ticket, use the world’s best suction technology to effortlessly mount and […]
It’s time for a power upgrade — throw out that tired-out power strip and swap in this family-size USB charger, packed with 6 high-speed ports. With a built-in control chip, Kinkoo optimizes each port to ensure the fastest charging possible for all your devices. The Kinkoo is made from high-grade and durable materials so you […]
Watching Netflix, Hulu or other streaming services can unfortunately be difficult while traveling outside the US. Rather than bypass these restrictions with the help of a complex and slow VPN, choose a faster and simpler solution with Getflix. Instead of rerouting all your Internet traffic through a different server, this handy service only routes the […]