Targeted therapy for hereditary diseases in children: Problems and prospects
The development of molecular medicine is due to the emergence of new ideas about the key features of the pathogenesis of different diseases, which has resulted in an active search for new highly specific diagnostic markers and in the development of treatment options associated with their target effect on gene, RNA, or specific proteins (targeted therapy). The paper considers the most pressing problems in the development of targeted therapy for genetically related diseases. It examines progress and potentialities in the development of respective treatments for storage, neuromuscular, mitochondrial, and other diseases. Special emphasis is laid on that the development and promotion of new diagnostic technologies to detect diseases for which effective treatment modalities have emerged or will be available in the near future are the most important tasks. An example of the technologies effective in this regard is the determination of biochemical disease markers by a dried blood spot analysis. In Russia, there should be, among other things, organizational measures to create data banks on patients with diseases for which highly effective treatments are or can be expected in the next future. Low physician awareness regarding the new possibilities of treatment for hereditary diseases is one of the leading challenges to the introduction of targeted therapy in Russia. To solve the problem requires the wide dissemination of respective knowledge in both the higher and postgraduate medical education systems and the programs of All-Russian and regional conferences on pediatrics, neurology, and other fields of medicine.