The Cyprus Institute of Neurology & Genetics (Department of Blood Disorder Genetics & Thalassemia (BDGT))

Mission: To identify and resolve current and emerging needs in diagnosis, therapy, research, education and knowledge infrastructure, in order to benefit society at large, and carrier and patient communities of thalassemias and other rare disorders in Cyprus in particular. Description & Objectives: Established to become a leading reference lab for thalassaemia in Cyprus, the Molecular Genetics Thalassaemia Department (MGTD) at CING is dedicated to excellence. It has built a global reputation for its outstanding services, research, and education. Providing genetic testing for variant detection and characterisation of hemoglobinopathies, the MGTD innovates diagnosis across monogenic diseases, as the national reference centre for their preimplantation genetic testing (PGT-M) and non-invasive prenatal testing (NIPT). Uniquely placed by combining clinical haematology services with exceptional molecular analysis expertise and equipment, the MGTD medical and diagnostic staff are dedicated to advancing and communicating precision diagnostics, and to offering personalized patient care and advice. MGTD research focuses on pioneering diagnostics and therapeutics for red blood cell disorders. To innovate treatments, the MGTD employs cutting-edge genome manipulation by gene addition and editing, in transgenic cell lines, stem cells and immunodeficient mice as surgical models. The MGTD implements patient registries for rare blood disorders, leads a large-scale, multi-ethnic genome-wide association study of genetic modifiers for hemoglobinopathies, and runs the world-leading database platform for non-malignant blood disorders, the ITHANET Portal. Committed to knowledge creation, education and alleviating the global haemoglobinopathy burden via data-driven healthcare, the MGTD is program partner and host for training of health professionals and leads the ClinGen-recognised Hemoglobinopathy Variant Curation Expert Panel.

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