Dr. Eva D’haene

Mapping the 3D genome of the human retina to improve genetic diagnosis in inherited retinal neurodegenerative diseases
(promotor of the grant: Prof. Elfride De Baere)

Inherited retinal neurodegenerative diseases are a major cause of incurable blindness,

caused by the death or dysfunction of photoreceptor cells. Despite widespread application of sequencing-based approaches, ~40% of cases remain without a conclusive genetic

diagnosis. Structural variants (SVs) have thus far been difficult to detect and interpret and

therefore hold great potential to solve part of the missing heritability in retinal degenerative

diseases. Recent studies have shown that SVs do not only affect gene dosage, but also impact 3D genome structure, thereby disturbing gene regulation

In this project Eva will perform a systematic comparison of 3D genome structures at disease-associated loci and model the impact of putatively causal SVs on the retinal 3D genome