The Gene Expression and Signalling Research Group in the Institute for Cellular Biochemistry as well as the Clinic for Paediatric Kidney, Liver and Metabolic Diseases and Neuropaediatrics at the MMH Hospital in Hannover are cooperating with the Lviv Regional Perinatal Center and the Lviv Regional Center for Newborn Screening in Ukraine. The aim is to improve newborn screening using next-generation sequencing (NGS) of DNA and enhance patient care. \r
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Context: \r
Thanks to newborn screening, serious genetic diseases primarily linked to metabolic disorders can be detected in infants that appear healthy. Once detected, the diseases can be treated effectively with the help of diets and medication. \r
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Next-generation sequencing (NGS) is required when an infant has an abnormal metabolic panel that points to a genetic metabolic disease. NGS technology is currently unavailable in Lviv.\r
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Activities:\r
-\tSet up an interdisciplinary team of experts in human genetics, gynaecology, obstetrics and paediatrics in Lviv and establish a screening programme\r
-\tProcure NGS equipment\r
-\tTraining on how to carry out NGS screening and treat genetic metabolic diseases\r
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Results: \r
The project improves newborn screening services and thus the medical treatment of newborns and children with genetic metabolic diseases.