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  2. prof. dr. Elfride De Baere

prof. dr. Elfride De Baere

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Elfride De Baere (°1971) is a Senior Full Professor at Ghent University and Head of Lab at the Center for Medical Genetics Ghent (CMGG) of the Ghent University Hospital. A physician-scientist specializing in rare diseases, her research focuses on the genetics of inherited retinal diseases (IRDs) and the regulation of the neuroretina and retinal pigment epithelium (RPE) through multi-omics approaches. Key contributions include: Missing heritability in IRD and developmental diseases: She has identified causative genes and variants underlying IRDs, elucidating pathways like retinal transcription, ubiquitination, ciliary function, and splicing. She pioneered the study of non-coding variants, including deep-intronic and cis-regulatory variants, structural variants, and hypomorphic alleles. Her work demonstrated therapeutic potential for IRD. Retinal cis-regulatory landscapes: Her team has characterized ultraconserved non-coding elements (UCNEs) and chromatin interactions as cis-regulatory elements (CREs) in retinal development. Her team recently mapped the differential 3D genome architecture of the retina and RPE, advancing understanding of gene regulation in rare eye diseases. Functional genomics models: She leverages human stem cells, Xenopus tropicalis, zebrafish, and in vitro systems to dissect the mechanisms of IRDs and to find therapeutic targets. Her dynamic research group include s 3 postdocs, 8 PhD students, 3 lab technicians, and master’s students. She is a member of the European Retinal Disease Consortium (ERDC) and has coordinated/coordinates key European research networks, including: H2020 MSCA ITN StarT, EJP RD Solve-RET, MSCA-DN ProgRET, a running European doctoral network on autosomal dominant retinal diseases (www.progret.eu). She founded the multidisciplinary RARE-MED consortium at Ghent University to advance precision medicine for rare diseases. She serves on the editorial board of Progress in Retinal and Eye Research and the program committees of the American Society of Human Genetics (ASHG), ARVO, and ESHG. She is a member of AcademiaNet and the Scientific Advisory Board of the Foundation Fighting Blindness.
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