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Registration Number

0224U031384, 0119U100835 , R & D reports

Title

The role of genetic and epigenetic factors in the development and progress of hereditary and multifactorial diseases

Head

Horovenko Nataliia H., Доктор медичних наук

Registration Date

18-04-2024

Organization

Shupyk National Healthcare University of Ukraine

Description

 Here, we introduce a novel analysis of all lysosomal storage diseases diagnosed in 1995-2022 in Ukraine, and their incidence in the Ukrainian population as compared with the similar ones across the world. There were analyzed genotype-phenotype correlations, schemes for the risk cohort study including the most effective ones for different nosologies. The structure of lysosomal storage diseases detected in Ukraine is fully consistent with that in the other countries where the diseases have been effectively diagnosed for a long time. The neuropathic forms account for 57% in the structure of lysosomal storage diseases. This heterogeneous group of diseases, which requires a complex systematic clinical and laboratory diagnosis, is one of the main causes of neurodegenerative diseases in childhood. The well-timed and correct diagnosis contributes to early initiation of specific treatment, which results in saving the patient’s life and improving their medical and social rehabilitation.

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