Orphan genetic diseases: recent advances in molecular diagnostics, therapeutic perspectives, and the experience of Uzbekistan

Boboniyazov Kamiljon Kuranbayevich

Klinik fanlar yilnomasi · 2026-yil

Annotatsiya

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.

Maqola ma’lumotlari
MualliflarBoboniyazov Kamiljon Kuranbayevich
JurnalKlinik fanlar yilnomasi
NashriyotБухоро давлат тиббиёт институти
ISSN2025-2026, 0009-0006
Nashr sanasi2026-05-02
Jild3
Son1/1
TilIngliz
Ilmiy sohaTibbiyot
Indeksga qo‘shilgan2026-08-26

Maqolaning asl sahifasi

Kalit so‘zlar

orphan diseases, rare diseases, genetic disorders, next-generation sequencing, gene therapy, public health policy, Uzbekistan, орфанные заболевания, редкие болезни, генетические нарушения, NGS, генотерапия, государственная политика, Узбекистан, orfan kasalliklar, kam uchraydigan kasalliklar, genetik buzilishlar, yangi avlod sekvensiyalash (NGS), gen terapiyasi, sog‘liqni saqlash siyosati, O‘zbekiston

Ilmiy soha

Tibbiyot

Iqtibos keltirish

APABoboniyazov Kamiljon Kuranbayevich (2026). ORPHAN GENETIC DISEASES: RECENT ADVANCES IN MOLECULAR DIAGNOSTICS, THERAPEUTIC PERSPECTIVES, AND THE EXPERIENCE OF UZBEKISTAN. Klinik fanlar yilnomasi, 3(1/1). https://tadqiqot.uz/index.php/spjacd/article/view/13647
GOST (OAK)Boboniyazov Kamiljon Kuranbayevich ORPHAN GENETIC DISEASES: RECENT ADVANCES IN MOLECULAR DIAGNOSTICS, THERAPEUTIC PERSPECTIVES, AND THE EXPERIENCE OF UZBEKISTAN // Klinik fanlar yilnomasi. – 2026. – T. 3, № 1/1.
MLABoboniyazov Kamiljon Kuranbayevich. “ORPHAN GENETIC DISEASES: RECENT ADVANCES IN MOLECULAR DIAGNOSTICS, THERAPEUTIC PERSPECTIVES, AND THE EXPERIENCE OF UZBEKISTAN.” Klinik fanlar yilnomasi, 3(1/1), 2026. https://tadqiqot.uz/index.php/spjacd/article/view/13647
ChicagoBoboniyazov Kamiljon Kuranbayevich. “ORPHAN GENETIC DISEASES: RECENT ADVANCES IN MOLECULAR DIAGNOSTICS, THERAPEUTIC PERSPECTIVES, AND THE EXPERIENCE OF UZBEKISTAN.” Klinik fanlar yilnomasi, 3(1/1) (2026). https://tadqiqot.uz/index.php/spjacd/article/view/13647
HarvardBoboniyazov Kamiljon Kuranbayevich (2026) ‘ORPHAN GENETIC DISEASES: RECENT ADVANCES IN MOLECULAR DIAGNOSTICS, THERAPEUTIC PERSPECTIVES, AND THE EXPERIENCE OF UZBEKISTAN’, Klinik fanlar yilnomasi, 3(1/1). https://tadqiqot.uz/index.php/spjacd/article/view/13647
BibTeX
@article{boboniyazovkamiljonkuranbayevich2026,
  title = {ORPHAN GENETIC DISEASES: RECENT ADVANCES IN MOLECULAR DIAGNOSTICS, THERAPEUTIC PERSPECTIVES, AND THE EXPERIENCE OF UZBEKISTAN},
  author = {Boboniyazov Kamiljon Kuranbayevich},
  journal = {Klinik fanlar yilnomasi},
  year = {2026},
  volume = {3},
  number = {1/1},
  url = {https://tadqiqot.uz/index.php/spjacd/article/view/13647}
}

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