Research Information System
in: Türkiye klinikleri Tıbbi Genetik, Özbek U., Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.78-90, 2021
Rare diseases are a group of diseases that are less frequent than a certain threshold, but, on the whole, cause a serious public health burden. A significant amount of them are hereditary, and although encountered in all ages, they mostly affect children. Most rare diseases have no definitive treatment. Nevertheless, biotechnological progress helped us comprehend their pathophysiology and accelerated drug development processes. In this review, a general insight into the rare diseases is provided, followed by advancements in orphan drug development processes. The classification of the biotechnological therapies depending on their mechanism of action, current examples, candidate therapy modalities, and challenges faced during drug development are also discussed.