Rare diseases patients without borderpe


Rare Diseases Foundation of Iran (RADOIR) was established in 2008 as the first and only rare patients non-governmental organization by the deceased Dr. Ali Davoudian. After 2 years of national approaches and efficient activities, RADOIR was approved to start international collaborations. Dr. Ali Davoudian achieved international memberships at EURORDIS, RDI, ICORD and consultative status at ECOSOC and etc… “Nader Specialized Clinic” developed and run by RADOIR’s founder is supporting RADOIR and the rare patients with 24 hours medical services.

As we all know there is no single, widely accepted definition for rare diseases. Some definitions rely solely on the number of people living with a disease, and other definitions include other factors, such as the existence of adequate treatments or the severity of the disease. Most rare diseases have a genetic etiology, but the molecular pathogenesis has been defined for a relatively small number of rare diseases. For most of this small group, a specific gene alteration is recognized as responsible for the disorder, and for a subset, understanding of the pathogenesis extends to identification of the function of the affected gene product. For an even smaller subset, investigators have described targets such as specific molecules or physiologic pathways that are amenable to therapeutic modification. The next sections discuss some particular areas of research advances and their prospects for increasing understanding of the molecular pathogenesis of rare diseases. Such understanding provides the basis for modern drug discovery.

In the United States, the Rare Diseases Act of 2002 defines rare disease strictly according to prevalence, specifically “any disease or condition that affects fewer than 200,000 people in the United States”,[3] or about 1 in 1,500 people. This definition is essentially the same as that of the Orphan Drug Act of 1983, a federal law that was written to encourage research into rare diseases and possible cures.In Japan, the legal definition of a rare disease is one that affects fewer than 50,000 patients in Japan, or about 1 in 2,500 people.

However, the European Commission on Public Health defines rare diseases as “life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them.”[  The term low prevalence is later defined as generally meaning fewer than 1 in 2,000 people. Diseases that are statistically rare, but not also life-threatening, chronically debilitating, or inadequately treated, are excluded from their definition.

The definitions used in the medical literature and by national health plans are similarly divided, with definitions ranging from 1/1,000 to 1/200,000.Because of definitions that include reference to treatment availability, a lack of resources, and severity of the disease, the term orphan disease is used as a synonym for rare disease. But in the United States and the European Union, “orphan diseases” have a distinct legal meaning. The orphan drug movement began in the United States.