The Clinical Genetics Clinic is currently involved in research projects focusing on the identification of genetic factors underlying rare eye anomalies, syndromic and non-syndromic intellectual disability, congenital malformations as well as undiagnosed conditions. It is also conducting an epidemiological research aiming to calculate the incidence and prevalence of congenital malformations in Cyprus and to investigate whether there are any trends or patterns of occurrence. 

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Ongoing research projects include the identification of the underlying genetic factors responsible for the development and transmission of genetic conditions using conventional genetic sequencing techniques, which include rare ocular anomalies, various syndromes, skeletal dysplasias, genodermatoses, intellectual disability and congenital malformations as well as undiagnosed conditions. 

In addition, our Clinic in collaboration with the Cytogenetics and Genomics Department aims to identify novel genetic causes of undiagnosed neuro-developmental disorders using whole exome sequencing (WES). Patients are eligible to participate in our research project if they have a condition suspected to be of a genetic origin that is characterized by at least two phenotypes that may include congenital malformations, intellectual disability, dysmorphism, developmental delay and abnormal behavioural patterns. 

Congenital malformations (also known as congenital anomalies or birth defects) are important causes of mortality among infants and children, chronic illness and long-term disability. By definition, they refer to any abnormality present at birth that affects body structure or function. There are considerable uncertainties regarding congenital malformations in Cyprus, since our knowledge about their causes, incidence, prevalence and variations in the rates of occurrence, morbidity and mortality both geographically and over time, is very limited. 

Our Clinic has recently initiated CENSUS, a project that brings together local experts in the fields of Paediatrics, genetics, medical ethicists, patient advocates and epidemiologists to work together to establish a national registry of patients with congenital malformations and to collect epidemiological data to estimate the incidence and prevalence of these conditions in Cyprus and to investigate whether there are trends in the prevalence of certain congenital malformations over time or geographically. Monitoring the occurrence of congenital malformations over time and by geographical area will also allow earlier detection of the emergence of any new risk factors. This project also aims to construct a website, which is currently under development and will contain important information to reinforce the public’s awareness about congenital malformations, to promote good health practices during pregnancy and promote preventive measures.