Elfride De Baere
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Biosketch
Elfride De Baere (°1971) obtained her M.D. and Ph.D. degree in 1996 and 2002 respectively. She is Senior Full Professor at Ghent University, Senior Clinical Investigator of the Research Foundation Flanders (FWO) and Head of Lab at the CMGG at the Ghent University Hospital. She leads the Ophthalmic and Developmental Genetics Lab of Ghent University, which is part of a Belgian reference center for the genomics of a wide variety of inherited eye disorders such as inherited retinal diseases (IRD). She is partner of several international consortia such as the European Retinal Disease Consortium (ERDC), European Reference Network for Rare Eye Diseases (ERN-EYE), and coordinator of several concerted research programs such as ‘StarT' (H2020-MSCA-ITN-2018), 'Precision medicine in inherited blindness' (GOA UGent), and 'Solve-RET' (EJP RD). She is Associate Editor of Clinical Genetics, Communicating Editor of Human Mutation, and on the editorial board of Nature Scientific Reports and MDPI Genes. She serves on the scientific program committees of ARVO and ESHG. She has published >170 research papers (h-index 50), the majority in the field of Genetics, Ophthalmology and Multidisciplinary Sciences. She is president of the Belgian College of Genetics and Rare Diseases. Her research is focused on the molecular pathogenesis of Mendelian diseases with large genetic heterogeneity such as IRD. Some of her achievements in the fied of IRD genomics are the identification of novel disease genes (e.g. CEP162, NR2E3, RAX2, RCBTB1, RIMS2, SF3B2) and the characterization of new disease mechanisms. She has a special interest in noncoding variation as contributor to missing heritability of IRD, casued by cis-acting splicing variants (e.g. ABCA4); promoter/5'UTR variants (e.g. NMNAT1), cis-regulatory elements (e.g. PRDM13; IRX1), and structural variants impacting the 3D genome (e.g. PRDM13; IRX1). For the functional characterization of disease genes, she makes use of integrated omics, and cellular and animal models, such as Xenopus tropicalis.
Education and Degrees
INTERNATIONAL
Elfride De Baere (°1971) obtained her M.D. and Ph.D. degree in 1996 and 2002 respectively. She is Senior Full Professor at Ghent University, Senior Clinical Investigator of the Research Foundation Flanders (FWO) and Head of Lab at the CMGG at the Ghent University Hospital. She leads the Ophthalmic and Developmental Genetics Lab of Ghent University, which is part of a Belgian reference center for the genomics of a wide variety of inherited eye disorders such as inherited retinal diseases (IRD). She is partner of several international consortia such as the European Retinal Disease Consortium (ERDC), European Reference Network for Rare Eye Diseases (ERN-EYE), and coordinator of several concerted research programs such as ‘StarT' (H2020-MSCA-ITN-2018), 'Precision medicine in inherited blindness' (GOA UGent), and 'Solve-RET' (EJP RD). She is Associate Editor of Clinical Genetics, Communicating Editor of Human Mutation, and on the editorial board of Nature Scientific Reports and MDPI Genes. She serves on the scientific program committees of ARVO and ESHG. She has published >170 research papers (h-index 50), the majority in the field of Genetics, Ophthalmology and Multidisciplinary Sciences. She is president of the Belgian College of Genetics and Rare Diseases. Her research is focused on the molecular pathogenesis of Mendelian diseases with large genetic heterogeneity such as IRD. Some of her achievements in the fied of IRD genomics are the identification of novel disease genes (e.g. CEP162, NR2E3, RAX2, RCBTB1, RIMS2, SF3B2) and the characterization of new disease mechanisms. She has a special interest in noncoding variation as contributor to missing heritability of IRD, casued by cis-acting splicing variants (e.g. ABCA4); promoter/5'UTR variants (e.g. NMNAT1), cis-regulatory elements (e.g. PRDM13; IRX1), and structural variants impacting the 3D genome (e.g. PRDM13; IRX1). For the functional characterization of disease genes, she makes use of integrated omics, and cellular and animal models, such as Xenopus tropicalis.
Education and Degrees
- 2018 Clinical Geneticist
- 2009 Authorized physician in Medical Genetics, National Institute for Health Insurance
- 2009 Master in Specialist Medicine, Clinical Biology, Ghent University (UGent), Belgium
- 2006 Post-doctoral fellowship, U709 INSERM (R.A. Veitia), Paris, France (6 mo)
- 2002 PhD in Medical Sciences (Medical Genetics), UGent, Belgium
- 1996 Master in Medicine, UGent; magna cum laude
- 1996 Clinical scholarship, City Hospital NHS Trust, Birmingham, UK (1 mo)
- 1992 Bachelor in Medicine, UGent; maxima cum laude
- 2009-present Senior Clinical Investigator, Research Foundation Flanders (FWO). Research (50%)
- 2012-present Full Professor, Faculty of Medicine and Health Sciences, UGent. Academic (10%)
- 2010-present Head of Clinic, Center for Medical Genetics, Ghent University Hospital (GUH), Belgium. Clinical (40%)
- 2009-2012 Associate Professor, Faculty of Medicine and Health Sciences, UGent
- 2009-2010 Adjunct Head of Clinic, GUH, Belgium
- 2003-2009 Postdoctoral fellow FWO. Center for Medical Genetics, UGent, Belgium
- 2000-2001 Residency in Clinical Ophthalmology, Department of Ophthalmology, GUH, Belgium
- 1996-2000 PhD fellow FWO, UGent, Belgium (supervisors: A. De Paepe, L. Messiaen)
- 2017 Elected as member of AcademiaNet
- 2014 Senior Clinical Fellowship FWO, second term
- 2012 InBev-Baillet Latour Prize for Clinical Research. € 75.000
- 2009 Senior Clinical Fellowship FWO, first term
- 2004 First laureate, Funds for Research in Ophthalmology. € 20.000
- 2003 Postdoctoral fellowship FWO
- 1996 PhD Fellowship FWO
- 2007-present 10 defended PhDs, 6 ongoing PhDs
- 2011-present Supervisor of 6 postdoctoral fellows
- 2005-present Supervisor of 47 master students (17 of which started PhD afterwards)
- 2003-present Human Genetics, 3rd Bachelor of Biomedical Sciences, UGent
- 2009-present Developmental Genetics and Gene Regulation, 1st Master of Biomedical Sciences, UGent
- 2016-present Genome Diagnostics, Postgraduate Genetic Counseling, UGent
- 2017-present The Cell IV: Molecular Biology and Genetics, 1st Bachelor of Medicine, UGent
- 2007-2010 Interuniversity Permanent Education Course in Human Genetics. Co-lecturer
- 2009-2016 Capita Selecta of Hospital Medicine, 4th Master of Medicine, UGent. Co-lecturer
- 2016-present Member of the Faculty Council, Faculty of Medicine and Health Sciences
- 2015-present Member of the Research Council, UGent, Belgium
- 2014-present Co-chair of the Research Committee, Faculty of Medicine and Health Sciences
- 2011-present Member of the PhD Committee of the Faculty of Medicine and Health Sciences
- 2013-present Member of the gamma working group of the Research Council, UGent
- 2018-2022 Foundation Fighting Blindness (FFB) Scientific Advisory Board (SAB)
- 2018-2021 Elected member of the Biochemistry and Molecular Biology Section on the Annual Meeting Program Committee of the The Association for Research in Vision and Ophthalmology (ARVO)
- 2018-2022 Elected member of the Scientific Program Committee (SPC) of the European Society of Human Genetics (ESHG)
- 2018-present Management Board of the European Retinal Disease Consortium (ERDC)
- 2014-present Member of expert panel Med2 Genetics, Functional Genome Research, Bio-informatics, Developmental Biology of the Research Foundation Flanders FWO
- 2016-present Editorial Board Member Nature Scientific Reports, section Genetics and Genomics
- 2015-present Associate Editor Clinical Genetics
- 2013-present Vice-president and president (since 2018) of the Belgian College of Genetics
- 2010-2016 Reviewer for Fonds de la Recherche Scientifique (FNRS)
- 2006-present Reviewer for international funding bodies
- 2002-present Reviewer for peer reviewed journals
- ASHG, ACMG, ARVO, BeSHG, ESHG, ISER
INTERNATIONAL
- European Retinal Disease Consortium (ERDC), 2008-present, 30 joint papers: ERDC (www.erdc.info) shares genetic and clinical data of IRD cohorts and initiates research projects such as European training programs EyeTN: FP7-PEOPLE-2012-ITN (www.eyetn.eu, 2013-2017); StarT (H2020‐MSCA‐ITN‐2018 submitted in 2018). Groups: Frans P. Cremers, A. den Hollander, R. Collin, S. Roosing (chair) (Radboud University Medical Center, Nijmegen, The Netherlands); E. De Baere, B. Leroy, F. Coppieters (Ghent University, Belgium); B. Wissinger, S. Kohl (University of Tuebingen, Germany); C. Hamel († 2017), I. Meunier, V. Kalatzis (Institute for Neurosciences, Montpellier, France); S. Banfi (Telethon Institute of Genetics and Medicine, Naples, Italy); C. Ayuso (Instituto de Investigacion Sanitaria-Fundacion, Madrid, Spain); J. Millan (University and Polytechnic Hospital La Fe of Valencia, Spain); C. Inglehearn, C. Toomes, M. Ali (University of Leeds, UK); G. Black (The University of Manchester, UK); A. Lotery (University of Southampton, UK); C. Rivolta (University of Lausanne, Switzerland); D. Schorderet (Institute of Research in Ophthalmology, Sion, Switzerland); D. Sharon, E. Banin (Hadassah Hebrew University Medical Center, Jerusalem, Israel); T. Ben-Yosef (Technion-Israel Institute of Technology, Haifa, Israel); R. Koenekoop (McGill University Health Centre Montreal, Canada); R. Allikmets (Columbia University, New York, USA)
- ERN-EYE, 2017-present: European Reference Network dedicated to Rare Eye Diseases.
- Other relevant collaborations: Timothy Cherry, Center for Developmental Biology and Regenerative Medicine, Seattle Children’s Research Institute, USA: cis-regulatory datasets in human retina, 3 joint papers (2015-present); José Luis Gómez-Skarmeta, Spanish National Research Council, Universidad Pablo de Olavide, Sevilla, Spain: cis-regulation and chromatin structure (4C-seq), 1 joint paper, 1 in preparation (2013-present); Thomas Langmann, Experimental Immunology of the Eye, University of Cologne, Germany: reporter assays in mouse retinal explants, immunohistochemistry human and mouse retina, 4 joint papers, 2 in preparation (2013-present); Stephan Neuhauss, Institute of Molecular Life Sciences, University of Zurich, Switzerland: retinal electrophysiology in Xenopus mutants (2017-present)
- Bart P. Leroy, Department of Clinical Ophthalmic Genetics and Electrophysiology, UGent: major clinical collaborator on IRD genetic studies, 56 joint publications (2004-present)
- Kris Vleminckx, Developmental Biology, UGent: genome editing, animal studies in Xenopus
- partner of UGent Expertise Center for Sequencing, proteogenomics and stem cell platforms
- Belgian Medical Genomics Initiative (BeMGI); Belgian departments of ophthalmology
- Van de Sompele S, Smith C, Karali M, Corton M, 21 co-authors, Ayuso C, Inglehearn C, Banfi S, De Baere E. Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease, Genet Med. doi: 10.1038/s41436-018-0345-5 [Epub ahead of print] (2018).
- Van Schil K, Naessens S, Van de Sompele S, 10 co-authors, Karlstetter M, Langmann T, De Preter K, Kohl S, Cherry TJ, Leroy BP, CNV Study Group, De Baere E. Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and non-coding copy number variations, Genet Med. 20(2): 202-2013. doi:10.1038/gim.2017.97 (2018).
- Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, 13 co-authors, Chen R, Langmann T, Sui R, Meire F, Rivolta C, Hamel CP, Leroy BP, De Baere E. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. Am J Hum Genet. Aug 4;99(2):470-80 (2016).
- Van Cauwenbergh C, Van Schil K, 7 co-authors, Leroy BP, Coppieters F, De Baere E. arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs. Genet Med. 19:457-466 (2016).
- Verdin H, D'haene B, Beysen D, 5 co-authors, Carvalho CM, Lupski JR, De Baere E. Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. PLOS Genet. 9(3):e1003358 (2013).
- D'haene B, Attanasio C, Beysen D, Dostie J, 13 co-authors, De Paepe A, Dekker J, Antonarakis SE, De Baere E. Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. PLOS Genet. 5(6):e1000522 (2009).
- Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F, Mingozzi F, Bennicelli JL, Ying GS, Rossi S, Fulton A, Marshall KA, Banfi S, Chung DC, Morgan JI, Hauck B, Zelenaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler KS, Volpe NJ, Surace EM, Acerra C, Lyubarsky A, Redmond TM, Stone E, Sun J, McDonnell JW, Leroy BP, Simonelli F, Bennett J. Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet. 2009 Nov 7;374(9701):1597-605.
- Coppieters F, Leroy BP, Beysen D, 6 co-authors, De Baere E. Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Am J Hum Genet. 81:147-57 (2007).
- Beysen D, Raes J, Leroy BP, 17 co-authors, Veitia RA, De Paepe A, De Baere E. Deletions involving long-range conserved non-genic sequences (CNGs) upstream and downstream of FOXL2 as novel disease-causing mechanism in BPES. Am J Hum Genet. 77(2):205-18 (2005).
- De Baere E, Beysen D, 16 co-authors, De Paepe A, Veitia R, Messiaen L. FOXL2 and BPES: mutational hotspots, phenotypic variability and revision of the genotype- phenotype correlation. Am J Hum Genet. 72: 478-487 (2003).
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