The Cyprus Institute of Neurology & Genetics (Department of Molecular Genetics Thalassaemia (MGTD))

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:

The MGTD is the national reference laboratory for hemoglobinopathies and is dedicated to excellence. It has built a global reputation for its outstanding services, research, and education. Its vision is to be the most respected, reliable and resourceful partner for non-malignant blood disorders and advanced genetic methodology in Cyprus.

Uniquely placed by combining clinical haematology services with exceptional molecular analysis expertise and equipment, the MGTD and its medical and diagnostic staff are dedicated to advancing and communicating precision diagnostics, and to offering personalized patient care and advice.

Providing genetic testing for variant detection and characterisation of hemoglobinopathies, the MGTD innovates diagnosis across monogenic diseases, as central provider of their preimplantation genetic testing (PGT-M) and by development of non-invasive prenatal testing (NIPT).

MGTD research focuses on pioneering diagnostics and therapeutics for red blood cell disorders. To innovate treatments, the MGTD employs gene addition and editing in transgenic cell lines, stem cells and immunodeficient mice as surgical models.

Committed to knowledge creation, education and alleviating the global haemoglobinopathy burden via data-driven healthcare, the MGTD is host for training of health professionals and leads international networks of hemoglobinopathy experts. In this vein it leads the ClinGen-recognised Hemoglobinopathy Variant Curation Expert Panel, implements patient registries for rare blood disorders, and runs the world-leading database platform for non-malignant blood disorders, the ITHANET Portal.