The research programmes of the department are focused on the epidemiology of inherited metabolic disorders in Cyprus and neighbouring countries and their characterization at the biochemical and molecular level. Five disorders have been extensively studied so far: Sandhoff disease, GM1 Gangliosidosis, G-6-PD deficiency Maple Syrup Urine Disease and Ethylmalonic Encephalopathy. 

The Department is currently involved in the following projects:

Epidemiology and molecular basis of galactosaemia in Cyprus

The role of endoplasmic reticulum and oxidative stress in the pathogenesis of galactosaemia

The molecular basis of phenylalanine hydroxylase deficiency in Cyprus