A discovery is said to be an accident meeting a prepared mind. - Albert Szent-Gyorgyi (1893-1986)
Rare Disease Day was observed on February 28, 2011, with the slogan "Rare but equal." The purpose of having this day dedicated to unusual diseases is to raise awareness of these rare, but in the aggregate, common conditions.
A rare disease in the United States is defined as a disease which affects less than 200,000 individuals. It is estimated that more than 25 million people in the U.S. suffer from a rare disease. In the European Union, rare diseases are defined as diseases that affect fewer than 1 in 2,000 individuals, and it is estimated that there are over 30 million individuals in the European Union living with a rare disease. There are estimated to be between 6,000 to 8,000 rare diseases and about 80 percent of these conditions are genetic in origin. The other 20 percent of these conditions are due to proliferative or degenerative conditions, infections, exposures or allergies. More than half of these conditions affect children and are chronic and often life-threatening.
One difficulty for patients with rare diseases is the potential for delayed diagnosis. They often have common, nonspecific symptoms that suggest a number of more familiar diseases. Also, for most rare diseases there is little quality scientific information on diagnosis and treatment of these conditions. Recently, medical researchers have been making strides in the diagnosis, evaluation and prevention of many of these rare diseases.
Another difficulty for patients with rare diseases has been that pharmaceutical companies in the past have not been interested in developing treatments for rare diseases. The Orphan Drug Act of 1983 sought to improve this situation by giving incentives to companies to develop treatments for rare diseases. The National Institutes of Health has recently launched the Therapeutics for Rare and Neglected Diseases (TRND) program which will develop new treatments for these diseases. More information about TRND can be found at http://www.rarediseases.info.nih .gov/TRND.
SimulConsult is web-based software that allows one to enter relevant positive and negative findings about the patient, then generates a differential diagnosis. SimulConsult was initially designed to aid in the diagnosis of rare diseases, specifically genetic neurologic and metabolic conditions. The software also recommends other findings and laboratory data which may assist in making an early, correct diagnosis. SimulConsult can be downloaded at http://www.simulconsult.com/. Physicians and other health care professionals can log onto the website at no charge. However, if a disease is not present in the database, it is not included in the generated differential diagnosis. There are currently more than 2,300 diseases present in the database, primarily genetic neurologic and metabolic conditions. With physicians and researchers entering more relevant information about different diseases in the database, one will be able to use it for a wider range of conditions. SimulConsult is designed to supplement, not replace, the health care provider's evaluation and diagnosis and assist in making a timely and accurate diagnosis. With continued research, especially with all the original information provided by and generated from the Human Genome Project, we will see an improved understanding of rare diseases. This understanding will include the basic etiology, pathophysiology and reveal potential treatments and, hopefully, cures for these diseases.
©Copyright Keith A. Hansen, M.D.
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