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Marie-Christine Morel-Kopp, PhD

Senior Scientist
Northern Blood Research Centre, Kolling Institute of Medical Research, The University of Sydney, Sydney, Australia
St Leonards, New South Wales, Australia

Marie-Christine Morel-Kopp is a researcher with commitment to basic and translational research in the haemostasis and thrombosis field. She trained in immuno-haematology with her research focusing on thrombosis and haemostasis, and with a particular interest in human platelet disorders. She received her PhD from the University of Pierre et Marie Curie, Paris, France and was a Marie Curie fellow in Luxemburg before moving to Australia to work with Pr Chris Ward in Sydney. Platelets play a central role in physiological hemostasis and inherited platelet disorders (IPDs) make up a significant proportion of congenital bleeding diseases, but they remain poorly understood and often misdiagnosed. IPD molecular diagnosis was not performed widely because of the genetic heterogeneity of this group of disorders. Next-generation sequencing (NGS) technology has revolutionized genetic testing and is a valuable tool used since 2013 at the Northern Blood Research Centre to investigate IPD patients and their families. This is the only facility in Australia offering a free comprehensive genetic testing to all patients with a suspicion of inherited platelet disorder, providing a diagnosis in approximately 50% of the cases which translates into the implementation of appropriate treatments and improved care. The group was first to identify human GFI1B as an important transcription factor in megakaryopoiesis and in maintaining adequate platelet function. In 2015, she linked FLI1 to the platelet abnormalities observed in Paris-Trousseau syndrome. She has also identified new likely pathogenic variants in many other genes including ANKRD26 and RUNX1 known to be associated with an increased risk of leukemia. She collaborates with many national and international ISTH colleagues. She is actively involved with the Platelet Immunology (HIT) and the Genomics in Thrombosis and Haemostasis ISTH sub-committees and is a ClinGen Platelet Gene and Platelet Variant Curation Working Groups Expert.

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