Research Projects are being conducted related to gene mapping, gene identification and mutation detection studies in a selection of neurological conditions Research Projects are being conducted related to gene mapping, gene identification and mutation detection studies in a selection of neurological conditions.

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 have been financially supported by the Muscular Dystrophy Association (MDA) of the United States, the French MDA (AFM), the European Union, 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.

The Department is currently involved in research projects on Charcot‐Marie‐Tooth neuropathies, spinocerebellar ataxias, multiple sclerosis and type 2 diabetes.