cfDNA methylation analyses for the improvement of diagnosis and prognosis in ocular, pregnancy-related and renal conditions.

This project aims to develop novel analytics and bioinformatic methods for minimally invasive tests to identify DNA methylation-based signatures associated with ocular, pregnancy-related and renal conditions. Traditional diagnostic tests either rely on invasively obtained material, or on non-invasive (protein) markers that have a low discriminatory power. However, with the development of next-generation sequencing (NGS) technologies, it is now possible to isolate cell-type- and disease-specific signals from DNA methylation profiles, through bodily fluids such as blood plasma, intra-ocular fluid and urine. Our previous work established the feasibility of such analyses, and allows us to develop methods that could potentially discern diagnostic and disease-prognostic signals. It is our hope that genome-wide cfDNA methylation profiles thus may be used as early diagnostic and predictive biomarkers for such diseases.