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
NASA today announced that astronomers studying data from NASA’s Great Observatories have found the best evidence yet for “cosmic seeds in the early universe that should grow into supermassive black holes.”
Could you recover a murder victim’s last sight of their killer by extracting it from the retina? Little more than a century ago, forensic scientists thought it might be possible. After all, in 1877 physiologist Wilhelm Friedrich Kühne was able to develop a simple image from an albino rabbit’s dissected eyeball. (Above, the two images […]
Backed by huge donations from vitamin companies, the American Association of Naturopathic Physicians is pushing to get naturopathic medicine recognized and regulated in all 50 US states, paving the way to receiving public funds in the form of Medicare reimbursements.
Jared Sinclair developed the RSS reader app Unread, which made $10,000 in its first 24 hours on the iOS market. And we’ve all heard the story of Flappy Bird developer Dong Nguyen, whose creation was reportedly earning $50,000 a day at the height of its 2013 explosion. While those are rare examples, they’re also testament to the […]
If you or your company’s IT system are besieged by black hat cyber attacks, an ethical hacker might be all that stands between crippling damage and a company’s long-term prosperity. It’s no wonder that the market for IT security specialists is exploding. Certification is the key – so learn the tenets of ethical hacking and get […]
Your laptop and mobile devices are top of the line…so why are you trotting out that raggedy decades-old suitcase when you go somewhere? Time to up your travel game with a complete 5-piece Herschel Travel Luggage bundle…and we’ll even give it to you for free!Of course, you’ve got to win the Ultimate Herschel Travel Bundle […]