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Information × Registration Number 0125U002744, R & D request Title Molecular genetic mechanisms of orphan and mass socially significant diseases of oligogenic nature Head Livshyts Liudmyla A., д.б.н. Registration Date 17-06-2025 Organization Institute of Molecular Biology and Genetics of NAS of Ukraine popup.description1 Based on the results of whole-exome analysis of DNA preparations of patients with disorders of the endocrine and nervous systems, as well as the results of the analysis of polymorphic variants of the DNA sequence in patients with dystrophy and epithelial barrier disorders (according to GWAS data), to identify new candidate genes and combined pathogenic variants of several genes, mutations in which determine the clinical phenotype of oligogenic diseases. Using methods of bioinformatic analysis and modeling of the structure of mutant proteins, to propose molecular genetic mechanisms of the pathogenesis of the diseases under study. popup.nrat_date 2025-06-17 Close