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Maria Neofytou

PhD


Postdoctoral Researcher

I am a postdoctoral researcher in the Clinical Genetics group of Professors Andrew Wilkie and Anne Goriely.

My scientific interests focus on translational research and technology development for early non-invasive diagnostic testing towards a larger goal of personalised medicine. In our lab, we have developed state-of-the-art assays such as targeted next-generation sequencing (NGS) assays to reliably detect and quantify low abundance mutations for early cancer detection, (liquid biopsy), as well as non-invasive prenatal testing (NIPT) of severe disorders.

Using non-invasive genetic testing for deleterious mutations during pregnancy enables us to apply a screening approach to address biological questions related to the “paternal age effect” and the birth prevalence of rare Mendelian diseases.

 I earned my PhD at the Cyprus Institute of Neurology and Genetics where I employed targeted next-generation sequencing for prenatal testing of microdeletion syndromes. Following this, I joined the group of Joris Vermeeesch in KU Leuven in Belgium and I was involved in various projects from early cancer detection in elderly people, to non-invasive testing for single gene disorders during pregnancy.