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 EVATAR is a working model of a reproductive system made from a mouse ovary and bits of a human uterus, cervix, vagina, fallopian tubes, and liver. Developed by Northwestern University researcher Teresa Woodruff and her colleagues, the EVATAR is intended to help better test the effects of medicines and toxins on women. And now […]
Texas State University’s Body Farm (AKA Forensic Anthropology Center at Texas State University or FACTS) is a 45-year-old facility where the corpses of medical body donors are left to decompose so that researchers can observe the rate at which human remains are consumed by the elements, scavengers and microbes, allowing them to accurately date the […]
A better understanding how a sperm swims its way toward an egg could help inform new treatments for male infertility. Researchers from the University of York have now come up with a mathematical formula to model how large numbers of moving sperm interact with fluid they’re swimming through. From the University: By analysing the head […]
Maybe it’s entirely because of podcast ads, but drag-and-drop tools like Squarespace have gotten immensely popular in recent years. While it’s definitely a great tool for any non-coders who want to get a small website up and running quickly, managing content with a primarily visual interface can become a pain once you have more than […]
When you can’t wait for the world’s longest meeting to end, the mindless leg bouncing makes your boredom obvious and just annoys everybody else. Everyone knows the TPS reports need the damn cover sheet, but some sadistic colleague keeps forgetting, probably on purpose just to eat into your lunch hour. Enough is enough!While serving a […]
What could be more fun than a slingshot that shoots tiny airplanes? A slingshot that shoots tiny glowing airplanes of course! These toy planes are outfitted with ultra-bright LEDs, so you can fly all night without losing them in the trees.Whether you are a regular-sized child, or an overgrown adult one, these light-up flyers offer […]