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Information × Registration Number 0226U002930, (0123U101700) , R & D reports Title Effectiveness of early diagnosis of monogenic hereditary pathology in Ukraine in view of the current state and prospects for the development of the mass neonatal screening program popup.stage_title Ефективність ранньої діагностики моногенної спадкової патології в Україні з огляду на існуючий стан та перспективи розвитку програм масового неонатального скринінгу. Head Akopian Haiane R., Доктор медичних наук Registration Date 10-03-2026 Organization State institution "Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine" popup.description1 Development of methodical approaches to improve early diagnosis of monogenic hereditary pathology based on the development of mass neonatal screening programs and more detailed molecular genetic diagnosis of detected cases. popup.description2 An algorithm for early diagnosis of socially significant hereditary monogenic diseases is proposed based on improving the mass neonatal screening program, clarifying molecular genetic diagnostics, and created registries aimed at improving patient rehabilitation and preventing new cases of severe pathology in the family. New methodological approaches to the formation of registries of cases of monogenic diseases are proposed in order to improve therapeutic support of patients and monitoring of reproductive function in high-risk families, which correspond to modern global trends in the development of medical genetics. The factors that reduce the effectiveness of the mass neonatal screening program are highlighted, the adequacy of the laboratory, methodological, and material and technical bases to the needs of expanding the list of orphan diseases is analyzed, and the diagnostic algorithm is streamlined taking into account the military situation in the country. Product Description popup.authors Tyrkus Marta Ya. Iryna B. Kovaliv Bohdan I. Tretiak Liliia B. Chorna Hanna S. Chaikovska Marta I. Drobchak popup.nrat_date 2026-03-10 Close