Rare Diseases Driving the Development of the Pharmaceutical Industry and Production

Rare diseases are a key driver for the development of therapeutic capabilities and pharmaceutical production in Russia. Despite the limited number of people at risk, each disease of this kind requires the development of innovative approaches to treatment, including the creation of new drugs and diagnostic technologies. Only 5% of rare diseases have pathogenetic treatment, which underscores the importance of scientific innovation. Russia needs to ensure access to modern medical technologies by strengthening its own scientific and technical potential and independence. A new trend has been the introduction of neonatal and selective screening methods that allow for the timely detection of genetic mutations among newborns and children. Early diagnosis significantly increases the chances of successful treatment, especially in childhood, since most rare diseases appear in the first years of life. Pharmaceutical companies need to be proactive and focus on adapting manufacturing processes in order to promptly respond to the market’s needs. What are some of the difficulties with developing treatments for rare diseases? What specific aspects of rare diseases should efforts focus on? What is the selective screening method and why is it important? Why is the early diagnosis of rare diseases in children important? How can we stimulate the development of innovative therapy for rare diseases?