The Cyprus Institute of Neurology and Genetics (Dept of Biochemical Genetics)

Mission: The mission of the Biochemical Genetics Department is to serve as a national reference laboratory for inherited metabolic disorders (IMDs) by providing high-level diagnostic services, research and education in the field of IMDs and metabolism.

Objective: The Biochemical Genetics Department was established in 1990 and specializes in the laboratory investigation of inherited metabolic disorders (IMD), also known as inborn errors of metabolism. IMDs comprise a group of more than 1500 disorders, and although individually rare, they collectively affect approximately one in every 1000 newborns. Laboratory testing is crucial for diagnosis and the timely treatment of patients. The Biochemical Genetics Department offers a broad spectrum of specialized biochemical tests covering the major groups of IMDs. The Department also engages in research and educational activities. Research directions of the Department include the understanding of pathomechanisms and approaches to improve pathological features of IMDs with a particular focus on glycogen metabolism and storage. Additional research projects conducted at the Department aim in the characterization of the molecular and biochemical basis of IMDs in Cyprus. The Biochemical Genetics Department actively engages in educational activities of the Cyprus Institute of Neurology and Genetics which include teaching and the supervision of MSc and PhD students.