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
Frog tongue mechanism has been well-documented, but only recently have scientists started looking at the remarkable combo of tongue softness and frog spit’s chemical makeup.
Elenco’s Night ‘n Day Mechanical Globe uses a system of translucent, exposed gears to rotate an internally illuminated globe that displays the seasonally adjusted, real-time night/day terminator as it spins.
KSU plant biochemical geneticist Raj Nagarajan describes the properties of Thaumatin, Monellin and Brazzein, all found in west African plants that are generally considered safe for consumption; each is a protein, and they are, respectively, 1,000x, 2000x, and 3000x sweeter than sugar.
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Although there will never be a consensus about the best way to make coffee, any coffee connoisseur will agree that controlling the grind of your beans and balancing water temperature are the keys to a tasty cup. Since your plastic coffee pot doesn’t really allow for that kind of customization, going back to the French […]
Not all hackers are malicious information thieves—white-hat ethical hackers work with technology companies to ensure the security of their computer systems and user data. With all of today’s high-profile data breaches, ethical hackers are in considerable demand. To learn these critical skills and break into the high-paying cyber security field, try taking the courses in this […]