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
In the late 1960s and 1970s, the mind-expanding modus operandi of the counterculture spread into the realm of science, and shit got wonderfully weird. Neurophysiologist John Lilly tried to talk with dolphins. Physicist Peter Phillips launched a parapsychology lab at Washington University. Princeton physicist Gerard O’Neill became an evangelist for space colonies. Groovy Science: Knowledge, […]
In a lead editorial in the current Nature, John Wilbanks (formerly head of Science Commons, now “Chief Commons Officer” for Sage Bionetworks) and Eric Topol (professor of genomics at the Scripps Institute) decry the mass privatization of health data by tech startups, who’re using a combination of side-deals with health authorities/insurers and technological lockups to […]
The Wall Street Journal reports that storytellers—people with a natural inclination to craft concise yet compelling narratives without rambling—were found to be hot by science. Feels good to be a writa. The results were the same across all three studies: Women rated men who were good storytellers as more attractive and desirable as potential long-term […]
Having to pack and drag your stuff through security can put quite the damper on your vacation plans. Thankfully, we’ve got your back with one way to make traveling more painless: the Jumper Overnighter Travel Bag.This compact bag is so lightweight that you can effortlessly carry it, and fit it into any overhead compartment. But just […]
Learning is a 24/7/365 proposition, and it never ends. And if you’re truly serious about leveling up your skill sets and career prospects, get a subscription to Stone River Academy’s massive course collection. This offer normally is worth over $1,400, but is now available for just $89 in the Boing Boing Store.A respected name in information technology […]
Home audio has taken some big leaps forward in recent years–not just in terms of sound quality, but also in the style department. The FRESHeBAR Leather Soundbar, now 56% off in the Boing Boing Store, is proof.The FRESHeBAR comes packing almost all the options you’d ever need for a home sound system, including Bluetooth streaming capabilities.The unit’s 90 […]