The Department's research interest focuses mainly on mental retardation, its diagnosis and prevention. Through an FP6 research project, a non‐invasive test for the diagnosis of Down syndrome from maternal blood (11th‐ 14th week of pregnancy) has been established which obviates the need for invasive procedures such as cvs or amniocentesis and does not carry any risk for miscarriage. This research was published in Nature Medicine and received worldwide recognition. Though another ongoing research project we performed in‐depth investigation, using high resolution microarrays, of recurrent genetic conditions and syndromes linked to X‐chromosome abnormalities identified the underlying mechanisms responsible for the disease development and inheritance. In addition we have also developed a specific array to detect microdeletions and microduplications in genes of the X chromosome which led to the identification of new genes involved in X‐Linked Mental Retardation. This research received the The Cyprus Award for Innovation 2009 (Public Sector) from the Cyprus employers and industrialists federation.

On-going Research Projects

• Development of Non‐Invasive Prenatal Diagnosis for Down Syndrome and other chromosomal and genetic disorders.
• Application of high‐resolution microarrays in prenatal diagnosis.
• Genomic investigation of syndromes linked to X‐chromosome abnormalities and characterization of the underlying structural rearrangements and genetic mechanisms.
• Development of exon specific array for the detection of microdeletions and microduplications in genes of the chromosome X.
• Genetic investigation of patients with X‐linked mental retardation.
• Genomic investigation and characterization of unknown and rare genetic and neurological syndromes in the Cyprus population with high resolution microarrays.
• Investigation and characterization of the clinical significance of Copy Number Variations in the human genome.
• Mapping of Copy Number Variations in the Cyprus population.
• High resolution genetic investigation of autism in Cyprus.
• Application of Next Generation sequencing in undiagnosed  cases of intellectual disability.
• Accurate Mapping of Breakpoints in Apparently Balanced Translocations Using Whole-Genome Next Generation Sequencing.