The Metabolism Unit at Hannover Medical School’s Center for Pediatrics and the Lviv Regional Clinical Perinatal Center have teamed up to create a robust framework for genetic testing (next generation sequencing, NGS) for metabolic disorders and rare congenital diseases in Ukrainian hospitals.\r
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Context\r
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The options for diagnosing, treating and monitoring metabolic disorders and rare congenital diseases are limited in Ukraine, as there is a lack of the necessary modern genetic testing methods and the expertise required.\r
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Exome NGS enables the genetic mutations responsible for various diseases to be identified precisely. Setting up a biobank will provide a key resource for ongoing research on rare diseases in Ukraine. It will ensure that samples are available for future studies and will help enhance understanding of these diseases throughout the world.\r
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Activities\r
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-\tAnalysing needs and improving the laboratory infrastructure to support exome NGS\r
-\tDesigning and running training courses for Ukrainian doctors and biomedical researchers focusing on data analysis, accurate diagnostics, appropriate treatment and genetic counselling\r
-\tProviding practical training with specialists from Germany\r
-\tImplementing joint research projects to validate and optimise exome NGS protocols, data analyses and biobanking for the Ukrainian context\r
-\tIntegrating exome NGS into clinical practice through pilot programmes and ongoing support\r
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Results\r
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By improving the options for diagnosing diseases, the standard of care for children with metabolic disorders and rare congenital diseases in Ukraine will be improved, aligning it with international health care standards. \r