Research Areas

• Epidemiology of inherited metabolic disorders in Cyprus and their characterization at the biochemical and molecular level  
• Establishment of a registry for inherited metabolic disorders in Cyprus 
• Sandhoff disease:
  This is a severe metabolic disorder characterized by rapid neurological deterioration leading to death before the age of four years. Research work carried out in the department has shown a high frequency of carriers in the Maronite community in Cyprus (1 in 7). Two novel mutations have been described. As a result of this research, diagnostic services have been set up for the detection of carriers and for prenatal diagnosis  
• GM1 Gangliosidosis:
  This is another severe metabolic disorder very similar to Sandhoff which also leads to death before the age of four. Preliminary work carried out by the department has shown that a high frequency of carriers is found in one village of the Troodos mountains. Research work is currently underway to establish the frequency of carriers and characterize the mutations involved. Diagnostic services for carrier detection and prenatal diagnosis have also been established.