Tracey Romero, Sports Medicine Editor, Philly.com Posted: Friday, February 27, 2015, 2:50 AM The word rare connotes something so unique and scarce that it becomes more valuable. When it comes to rare diseases though, the small patient populations usually means the disease has to fight harder for attention and funding. On World Rare Disease Day, which will be held on Saturday, February 28 this year, patients and their families as well as scientists, physicians and researchers will try to draw more awareness to rare diseases in an effort to improve access to treatment and to drive more research to be done. Although rarer than say heart disease or breast cancer, these diseases still have a deep impact on people both in our country and worldwide. According to the Center for Orphan Disease Research and Therapy at the University of Pennsylvania, orphan/rare diseases represent a collection of disorders that affect fewer than 200,000 individuals for any single disease type, yet there are more than 7,000 distinct orphan diseases. In all, over 25 million people in the United States are afflicted by orphan diseases. Most rare diseases are genetic and many of them present in early childhood. About 30 percent of children … Continue reading
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