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Preimplantation Genetic Testing for Rare Anaemias

Preimplantation Genetic Testing for Rare Anaemias

21/01/2021 17:00

Speakers: Marina Kleanthous

Target: Health professionals
Subnetworks: Red blood cell defects
Disease Groups: Alpha- thalassaemia diseases, Beta-thalassemia and related diseases, Hereditary spherocytosis, Rare constitutional hemolytic anemia due to pyruvate kinase deficiency, Rare constitutional hemolytic anemia due to an enzyme disorder (Other than PKD), Sickle cell disease and related diseases

Prof Marina Kleanthous, Head of the Molecular Genetics Thalassaemia Department (MGTD) of the Cyprus Institute of Neurology and Genetics (CING) and Professor at the Cyprus School of Molecular Medicine (CSMM). She has extensive experience in the diagnosis, prenatal diagnosis, non-invasive prenatal diagnosis (NIPD) and the preimplantation genetic diagnosis (PGD) of haemoglobinopathies and other single gene disorders. Her research interests include drug therapy for thalassaemia using HbF inducers, the development of biomarkers using omics technologies, GWAS and gene therapy for haemoglobin disorders by gene augmentation and correction. She is the coordinator of the ITHANET portal, a scientific community electronic-infrastructure for haemoglobinopathies and other rare anaemias. She is member of the ERN EuroBloodNet, which focusses on rare haematological diseases and in charge of designing and developing the Rare Anaemias Disorders European Epidemiological Platform (RADeep), a pan-European electronic patient registry for rare haematological diseases.  She is partner of the HVP initiative Global Globin 2020 Challenge (GG2020) that is aiming to establish global epidemiology and diagnosis of the thalassaemias, sickle cell disease and glucose-6-phosphate dehydrogenase deficiency, with focus on bridging the gap between high- and low-income countries. She coordinates the Haemoglobinopathy Expert Panel, which in collaboration with the HVP GG2020 Challenge, is currently working on the annotation and standardised classification of haemoglobinopathy-related variations based on the ACMG/AMP guidelines and submission to the ClinVar database in order to achieve a three-star rating. She is WP leader of the African Research and Innovative Initiative for Sickle Cell Education (ARISE) project an H2020 MSCA RISE project. She is WP co-leader of the European Paediatric Translational Research Infrastructure (EPTRI) project for designing the framework of the new Research Infrastructure (RI), aimed to enhance technology-driven paediatric research in discovery and early development phases to be translated into clinical research and paediatric use of medicines.