Rare diseases have started to come to the fore with the more effective control of the diagnosis and treatment processes of common diseases today. It is known that the delay in diagnosis and treatment of rare diseases, most of which are genetically based, sometimes takes years, and drug discovery is also more challenging. It is thought that the application of rapidly developing artificial intelligence technologies in the field of rare diseases, as well as general medicine, can accelerate these processes and could be beneficial in the management of these diseases. Studies on this subject have increased in number and quality in recent years. In this article, information about the usage of artificial intelligence will be reviewed in the light of the existing literature, both in rare diseases and in a few specific ones.
Keywords: Rare Diseases, Artificial Intelligence, Machine Learning, Deep Learning, Natural Language Processing
