Translational research aims to provide more relevant, usable outcomes that enhance human health directly. The purpose of translational research is to more rapidly and efficiently convert (move) basic science discoveries into practise. Translational science is a branch of research dedicated to deciphering the scientific and operational concepts that underpin each step of the translational process. Rare diseases are a driving force behind medical and pharmacological innovation and improvement. The majority of rare diseases are genetic disorders or atypical manifestations of infectious, immunologic, or oncologic diseases; they all allow researchers to explore the extremes of human pathology and gain insight into normal and abnormal physiology. Drug development has recently shifted its attention to predominantly genetic classification of diseases, allowing for the identification of molecularly defined targets and the creation of targeted therapeutics. Translational research has the potential to transfer promising research into practical new medicines for people suffering from rare diseases.