The research programmes of the Department of Biochemical Genetics have mainly focused on the epidemiology of inherited metabolic disorders in Cyprus and their characterization at the biochemical and molecular level. Among the disorders that have been extensively studied are Sandhoff disease, Tay-Sachs disease, GM1 Gangliosidosis, G-6-PD deficiency, Maple Syrup Urine Disease, Ethylmalonic Encephalopathy, Phenylketonuria, Galactosaemia and Glutaric Aciduria type I (see selected publications).
Ongoing Research Projects
New insights into glycogen metabolism, intracellular synthesis and trafficking
Role of glycogen in muscle differentiation and regeneration
The role of ER-mitochondria contact sites in muscle insulin resistance
The function of acid ceramidase in motor neurons and its association with Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME).
The role of acid ceremidase in the regulation of exosome formation, release and function.