Prof. Carsten Lederer, The Cyprus Institute of Neurology & Genetics Nicosia

Sickle cell disease and thalassemias are lethal blood disorders that affect the quality and quantity, respectively, of hemoglobin in red blood cells. As the most common monogenic diseases, both hemoglobinopathies now also pose a significant health challenge across Europe, owing to global migration from endemic countries. Based on a wide variety of causative mutations and on exceptional insights into globin gene regulation, the underlying disease mechanisms, and genetic disease modifiers, hemoglobinopathies are now frequently the model of choice for new therapeutic, diagnostic and epidemiological method development. This lecture will draw on our work in translational research, on variant curation and databases, and as the national diagnostic reference laboratory for rare non-malignant blood disorders in Cyprus, to explain concepts and recent progress in therapeutic gene editing, molecular epidemiology and advanced molecular diagnostic approaches. In the process, the lecture will illustrate the use of CRISPR/Cas, TALEN and base editing platforms to establish effective mutation-specific and mutation-agnostic therapies, the application of non-invasive and pre-implantation genetic testing approaches as alternatives to invasive prenatal testing methods, and the corresponding bioethical dilemmas in the context of monogenic diseases.