Epigenetics and Human DiseasesConference

Rare Diseases

Although market players were not interested in utilising rare disorders to produce medicines, they became known as orphan diseases. Financial incentives were established under the Orphan Drug Act to entice businesses to provide novel medications for rare diseases. The rare disease community has been using this estimate for a number of decades to demonstrate that while specific diseases may be uncommon, there are a lot of people who have rare diseases overall. More than 6000 uncommon diseases are characterised by a wide range of abnormalities and symptoms that differ not only from one disease to another but also from one patient to another who is suffering from the same condition. Symptoms that are somewhat common can mask rare diseases, causing misdiagnosis and delaying treatment.