Overview of Activities and Services

The Neurogenetics Department provides diagnostic services for neurogenetic and other hereditary diseases prevalent in Cyprus and neighbouring countries. These include mutation detection, linkage analysis, carrier detection and prenatal diagnosis of:

·     Familial amyloidotic polyneuropathy

·     Huntington’s disease

·     Friedreich’s ataxia

·     Spinocerebellar ataxias

·     Charcot-Marie-Tooth polyneuropathies

·     Spinal muscular atrophy

·     Limb-girdle muscular dystrophy

·     Myotonic dystrophy

·     Amyotrophic Lateral Sclerosis

The department has created and is in charge of the genetic registry of the Institute. The staff works closely with clinical neurologists, neuropathologists and neurophysiologists.

The department has the expertise to localize unknown disease genes by genome-wide linkage search. So far six neurogenetic and one nephrological disease genes have been mapped. Research programmes are financially supported by the Muscular Dystrophy Association (MDA) of the United States, the French MDA (AFM), UNOPS, MECC, the Planning Bureau / Government of Cyprus and the Cyprus Research Promotion Foundation. Several research programmes are organised in collaboration with other institutions in Europe, the United States and the Middle East.

The department became involved in the HUMAN GENOME PROJECT through a programme funded by the MDA (USA). The project continues and is focused on the identification of the gene involved in the pathogenesis of a novel form of hereditary motor neuronomathy (HMN-J) recently identified and mapped to chromosome 9p21.1-p12. The department in collaboration with the Sanger Centre that at the time had just been assigned to sequence chromosome 9, worked for the construction of the sequence ready counting map of the above region.