ORPHAN GENETIC DISEASES: RECENT ADVANCES IN MOLECULAR DIAGNOSTICS, THERAPEUTIC PERSPECTIVES, AND THE EXPERIENCE OF UZBEKISTAN
Keywords:
orphan diseases, rare diseases, genetic disorders, next-generation sequencing, gene therapy, public health policy, UzbekistanAbstract
Orphan diseases represent a heterogeneous group of disorders characterized by low individual prevalence; however, their cumulative frequency constitutes a substantial global burden on healthcare systems. According to current estimates, rare diseases affect between 300 and 475 million people worldwide, with approximately 72–80% of cases having a genetic origin. The aim of this review is to analyze recent publications from 2022–2025 addressing molecular genetic mechanisms, diagnostic advances, innovative therapeutic approaches, and public health policies in the field of orphan diseases, with particular emphasis on the situation in the Republic of Uzbekistan. The review demonstrates that the implementation of next-generation sequencing technologies and gene therapy has significantly improved the prognosis of several severe hereditary conditions. Nevertheless, considerable diagnostic, organizational, and socio-economic barriers persist, limiting equitable access to timely diagnosis and advanced treatment.
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