The research projects of the Department of Clinical Genetics and Genomics focus on using conventional and next generation sequencing techniques to identify the underlying genetic factors responsible for the development and transmission of various genetic conditions. These include rare syndromic and non-syndromic intellectual disability, neurodevelopmental disorders, congenital malformations, ocular anomalies, skeletal dysplasias, genodermatoses, and other rare genetic conditions. 

Congenital malformations, also referred to as congenital anomalies or birth defects, are significant contributors to infant and child mortality, chronic illness, and long-term disability. By definition, congenital malformations encompass any abnormality present at birth that affects the structure or function of the body. In Cyprus, there are considerable gaps in knowledge regarding congenital malformations, particularly in terms of their causes, incidence, prevalence, and variations in occurrence, morbidity, and mortality across different regions and over time.

To address this knowledge gap, our Department initiated “CENSUS”, a web-based national patient registry of Congenital Malformations in Cyprus, funded through a competitive grant from the European Commission’s 3rd Health Programme. This project brings together local experts in paediatrics, genetics, medical ethics, patient advocacy and epidemiology, to retrospectively and prospectively collect clinical and sociodemographic data from affected individuals and their families. The study aims to enhance our understanding of the burden of congenital malformations, and steer clinical, genetic and epidemiological research. Long-term monitoring of congenital malformations will allow us to calculate their incidence and prevalence rates in Cyprus, explore potential trends in the prevalence of specific malformations over time and by geographic region, and investigate the role of genetic and environmental risk factors. In the future, we aim to create a website that will contain important information to increase awareness about congenital malformations, promote healthy pregnancy practices, and provide preventive health information. 

Additionally, in collaboration with the Department of Cytogenetics and Genomics, our department seeks to identify the underlying genetic causes in undiagnosed patients with multiple congenital malformations (MCMs) and neurodevelopmental disorders (NDDs). Eligible patients for this study had previously undergone negative diagnostic workups and exhibited at least two phenotypic features, including congenital malformations, intellectual disability, dysmorphism, developmental delay, or abnormal behavioural patterns. Using family-based whole exome sequencing (WES), a molecular diagnosis was achieved for 17 out of 38 patients (44.7%), leading to the discovery of novel genetic variants associated with MCMs/NDDs.

In an effort to resolve undiagnosed cases of MCM/NDD, we recently initiated a new collaborative research project with the Department of Cytogenetics and Genomics. Our aim is to utilize Optical Genome Mapping (OGM), an emerging next-generation cytogenomic technique, to further characterize known structural variants (SVs) and potentially uncover cryptic SVs relevant to the phenotypes observed in undiagnosed patients. Patients are eligible to participate if: 1) they have one or more of the following clinical features: intellectual disability (syndromic or non-syndromic), multiple or isolated congenital malformations, or infertility and 2) if they have undergone prior diagnostic workups that yielded negative results or identified genetic alterations warranting further investigation. We anticipate that the resulting OGM data will provide new insights into the genetic aetiology of MCMs, NDDs, and infertility by uncovering novel candidate genes and disease mechanisms, potentially bringing an end to the prolonged diagnostic journey for these patients.

Please contact us at +357-22392835 for further details regarding the OGM project and information on how to participate.