Epigenetics in Rare Diseases
نویسنده
چکیده
By definition, a rare disease is any condition that affects a small percentage of the population. However, the cutoff number for which a disease is considered as rare varies with different regions. In the United States, the cutoff was fewer than 200,000 people [1] and while in Japan, it was fewer than 50,000 [2]. For Europe, rare diseases are life-threatening or chronically debilitating ones in which are of such low prevalence that special combined efforts are needed to address them and found to be 1 in 2,000 people [3]. As a consequence of low prevalence of rare diseases, there is a relative low interest to engage in academic and pharmaceutical research that would attempt to offer a therapeutic solution. Such rare diseases are also called orphan diseases. In any case, the rare diseases are usually genetic [4] and the symptoms can occur at any time. The present mini-review provides an overview about our current knowledge regarding the influences of epigenetic regulation in rare diseases and concludes with some future perspectives.
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