From 17-20th of October, 4 members of the De Baere Lab team attended the EMBO workshop on enhanceropathies: understanding enhancer function to understand human diseases, in Marseille (France). Lieselot presented a poster on one of the causes of North Carolina Macular Dystrophy (NCMD), namely non-coding duplications near IRX1. Chromatin interaction profiling of this region uncovered 10 candidate cis-regulatory elements (cCREs). Her poster details how she will investigate the underlying disease mechanisms of NCMD, a retinal enhanceropathy.
Charlotte presented a poster on her research deciphering the cis-regulatory region of FOXL2, a key factor in ovarian development. By combining her self-generated Hi-C and UMI-4C data in granulosa cells with publicly available OMICS data, she was able to identify 35 cCREs and 2 lncRNAs that will be validated using CRISPRi.
Eva presented a poster on a comparative 3D genome analysis between neural retina and RPE and the implications for the regulation of retinal disease genes. Lastly, also Victor presented a poster where he unravels the cis-regulatory landscape of ABCA4, in adult human retina.