Danijela Radivojevic Laboratory of Medical Genetics

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Presentation transcript:

Danijela Radivojevic Laboratory of Medical Genetics http://www.imd.org.rs/ Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic” - Belgrade, Serbia Danijela Radivojevic Laboratory of Medical Genetics

CF - diagnostic, treatment and care http://www.imd.org.rs/ CF - diagnostic, treatment and care Pediatric Clinic, Department of Pulmonology Biochemical Laboratory Laboratory of Medical Genetics Laboratory for Clinical Microbiology Laboratory for testing of Inherited Metabolic Disorders The results of many years experience in this field: Number of articles and abstracts on several domestic and international conferences Academic work - number of BSc, MSc and PhD thesis

Laboratory of Medical Genetics http://www.imd.org.rs/ Laboratory of Medical Genetics Section for Cytogenetics Section for Molecular Genetics cytogenetic, molecular-cytogenetic and molecular-genetic diagnostic analyses (4000 samples, annually)

CF - DNA genetic analysis http://www.imd.org.rs/ CF - DNA genetic analysis Performing DNA analysis of the CFTR gene since 1996. Postnatal diagnostic testing ≈ 600 samples Prenatal diagnostic testing ≈ 160 samples Carrier diagnostic testing for ≈ 1500 samples Contributors for CFTR2 project Members of Cystic Fibrosis European Network DNA extraction F508del 50 most frequent CFTR mutations in Europe

CF - genetic testing in Serbia http://www.imd.org.rs/ CF - genetic testing in Serbia Genetic analysis covered by health insurance: Mother and Child Health Institute of Serbia “Dr Vukan Cupic”, Belgrade DNA analysis Newborn screening (pilot study) Institute for Health Protection of Children and Youth of Vojvodina, Novi Sad DNA analysis (project of the Province of Vojvodina’s government) Newborn screening Genetic analysis not covered by health insurance: Institute of Molecular Genetics and Genetic Engineering, University of Belgrade DNA analysis, research testing Number of private labs, samples being sent abroad

CF - genetic testing in Serbia http://www.imd.org.rs/ CF - genetic testing in Serbia Problem: ≈ 20% of CF patients remain with uncharacterized CFTR mutation (one or both alleles) Sequencing of the gene is not covered by health insurance, very expensive, rarely reimbursed if done abroad - privilege of rich people in poor country? Hope: ECFS project “Complete CFTR gene mutation analysis in European patients with CF”

Welcome! http://www.imd.org.rs/ Prof. Predrag Minic President of the 41st ECFS Conference 2018 - Belgrade Head of Department of Pulmonology, Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic” Professor of Pediatrics, School of Medicine, University of Belgrade