Neurológia pre prax 2/2026
Challenges and perspectives in the diagnosis of undiagnosed pediatric patients and an overview of therapeutic options in rare diseases
Currently, more than six thousand clinical entities have been identified, which collectively affect approximately 68% of the global population and pose a significant healthcare and socioeconomic burden. Major advances in molecular genetics, particularly the introduction of whole-exome and whole-genome sequencing, have markedly shortened the time to diagnosis and enabled the discovery of new genetic causes of disease. Nevertheless, approximately half of all patients remain without a causal diagnosis. At present, targeted causal therapy is available for only a small proportion of these disorders, highlighting the need for continued research and innovation in the field of precision medicine. This article focuses on an overview of current diagnostic and therapeutic approaches and on the perspectives offered by emerging genomic technologies and targeted treatment strategies.
Keywords: rare diseases, undiagnosed patients, diagnostic odyssey, advanced genetic diagnostics, personalized medicine, drug repurposing.
