Open a version of this ORCID record formatted for printing.
Elfride De Baere (°1971) obtained her M.D. and Ph.D. degree in 1996 and 2002 respectively. She is Full Professor at Ghent University, Senior Clinical Investigator of the Research Foundation Flanders (FWO) and Head of Clinic at the CMGG at the Ghent University Hospital. She leads the Ophthalmic and Developmental Genetics Unit of Ghent University, which is part of a Belgian reference center for the genetics and genomics of a wide variety of inherited eye disorders such as inherited retinal diseases (IRD). She has a large biobank of genetic material from patients with genetic eye diseases, with ca. 800 new referrals a year. She is partner of international consortia such as the European Retinal Disease Consortium (ERDC), European Reference Network for Rare Eye Diseases (ERN-EYE) and coordinator or partner of several local consortia such as ‘Personalized functional genomics in Mendelian diseases’, ‘Precision medicine in rare and acquired diseases’, the ‘Ghent University Expertise Center for Sequencing’. She is Associate Editor of Clinical Genetics and Nature Scientific Reports, and serves on the advisory boards of many international funding bodies and research councils. She is president of the College of Genetics in Belgium. She has published >125 research papers, the majority in the field of Genetics, her H-index is 33. In 2012 she was awarded the Inbev-Baillet Latour Prize for Clinical Research.
Her research is focused on the molecular pathogenesis of Mendelian diseases with large genetic heterogeneity such as IRD. Some of her achievements in the field of IRD genomics are the identification of novel disease genes and the characterization of new disease mechanisms. She has a special interest in noncoding variation as contributor to missing heritability of IRD and other diseases. The identification of adjacent 5’UTR mutations in NMNAT1 in Leber congenital amaurosis type 9 (LCA9) linked noncoding sequence variation for the first time to congenital blindness and uncovered a hotspot for mutations. Since several years she studies autosomal recessive IRD such as Stargardt disease as paradigm for missing heritability. For the functional characterization of disease genes, she makes use of cellular and animal models, such as Xenopus tropicalis.