Rare Doesn’t Mean Incurable: How Science Is Changing the Outlook for Patients

Breakthrough drugs and technologies are creating new opportunities for the treatment of orphan diseases and dramatically expanding the range of treatment options for rare diseases, both in terms of developing new technologies and applying progressive medical practices in organ transplants, haematology, and the treatment of paediatric, autoimmune, and other pathologies. These breakthroughs are fundamentally changing the healthcare system in Russia and mark a transition to a new stage in the future of orphan medicine that entails a shift from the palliative treatment of symptoms to pathogenetic therapy, and the development of personalized medicine that aims to provide the best results for patients with rare diseases. What are some of the most recent breakthroughs in the treatment of rare diseases? How are advances in CAR-T therapy, gene therapy, and RNA technologies changing the trajectory of orphan therapy? What aspects of rare diseases require urgent attention today? What measures are encouraging domestic and international manufacturers to invest in this sector? What steps are being taken to improve the early diagnosis of orphan diseases?