Anterior segment dysgenesis (ASD) represents a spectrum of disorders characterised by structural abnormalities of the iris, cornea, iridocorneal angle, and lens. These diseases are one of the most common causes of childhood blindness. However, in only about a third of cases, current diagnostic strategies can determine the underlying cause at the DNA level.
This project aims to study the molecular mechanisms involved in ASD, including the identification of a new causal gene, supported by preliminary data. Changes at the DNA level will be determined using whole-genome sequencing, and optical genome mapping, in a cohort of patients who have already undergone diagnostic screening. The functional impacts of potentially pathogenic variants will be studied in vitro, in available tissues and organoids derived from affected individuals' cells, using both classic and novel methods such as RNA-seq, qPCR, EMSA, and reporter gene assays.
The knowledge gained will not only lead to a better understanding of the molecular causes of ASD but also help improve clinical counselling for affected families

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