Lab De Baere present(ed) @ ESHG 2022

No less than six lab members had an oral talk at the 2022 ESHG meeting. Sarah Vergult and Eva D'Haene presented on Structural variants disrupt a critical regulatory region downstream of FOXG1 and Mapping the 3D genome of the human retina and its role in retinal disease, respectively. Stijn Vandesompele's talk was titled Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies and Rocio discussed A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene. Victor López Soriano had a talk on An integrated approach using multi-omics data to dissect cis-regulatory role of ultraconserved non-coding elements (UCNRE) in human retina in the same session as Alfredo, who spoke Identification and charaterization of a novel retina-specific lncRNA upstream ABCA4 with a potential role in ABCA4-associated inherited retinal disease. Congrats to all on the very nice presentations! Miriam Bauwens had a poster presentation.