Elfride De Baere |
Phone: +32 (0) 933 25186
|
|
|
Biosketch
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:
Her dynamic research group includes 4 postdocs, 8 PhD students, 3 lab technicians, and several 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.
Appointments
Awards and Honours
Supervision of Doctoral and Postdoctoral Fellows
Teaching Activities
Institutional Responsibilities
Reviewing activities - Commissions of Trust
Memberships of Scientific Societies
Organisation of Scientific meetings (selection from last 5 years)
Major Collaborations
INTERNATIONAL
Key Publications
International invited presentations (last 2 years)
2024 ISER 2024 Buenos Aires, Argentina; NIH/NEI seminar (hosts: A. Swaroop, M. Redmond), Bethesda, USA; Choroideremia Research Foundation CRF, Montpellier, France | 2023 ERN-EYE. Strasbourg, France; EVER 2023. Valencia, Spain; EPOS. Leuven, Belgium; EURETINA, Amsterdam, The Netherlands; i3S. Porto, Portugal; ESHG-EMQN. Glasgow, UK; UK Eye Genetics Meeting (UK-EGG), Edinburgh, UK; ERN-EYE virtual; I3h Symposium Rare Diseases. Brussels, Belgium; ARVO. Symposium: Epigenetics in ocular health & disease. New Orleans, USA; Children's Medical Research Institute, Sydney, Australia; ISER XXV, Invited Session, Gold Coast, Australia; Portuguese Society of Human Genetics, Coimbra, Portugal.
Education
Career breaks
2001 (4 months), 2003 (4 months), 2012 (4 months). Maternity leave.
Lab Totem
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:
- 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, and has 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, and in vitro systems to dissect the mechanisms of IRDs and to find therapeutic targets.
Her dynamic research group includes 4 postdocs, 8 PhD students, 3 lab technicians, and several 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.
Appointments
- 2020-present Senior Full Professor, Faculty of Medicine and Health Sciences, UGent, Belgium. Academic (10%)
- 2010-present Head of Clinic, Center for Medical Genetics, Ghent University Hospital (GUH), Belgium. Clinical (40%)
- 2009-2024 Senior Clinical Investigator, Research Foundation Flanders (FWO). Center for Medical Genetics, UGent, Belgium. Research (50%)
- 2012-2020 Full Professor, Faculty of Medicine & Health Sciences, UGent
- 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 Ophthalmologist-in-training, Department of Ophthalmology, UZ Gent, Belgium
- 1996-2000 PhD fellow FWO. Center for Medical Genetics, UGent, Belgium. (supervisors: A. De Paepe, L. Messiaen)
Awards and Honours
- 2009-2024 Senior Clinical Fellowship FWO, 1st (2009), 2nd (2014) & 3rd term (1802220N)
- 2023 Neurovision Prize 2023, JED Foundation. € 100.000
- 2022 Prize John W. Mouton Pro Retina en Marie-Claire Liénaert. € 116.000
- 2021 TOP LIST of Women in European Vision Research 2021, European Vision Institute EVI EEIG
- 2020 Prize Fund John W. Mouton Pro Retina. € 30.000
- 2020 Q01 - Visionary of the quarter of the European Vision Institute EVI EEIG
- 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
Supervision of Doctoral and Postdoctoral Fellows
- 2007-present 19 defended PhDs, 8 ongoing PhDs
- 2011-present Supervisor of 12 postdoctoral fellows, 4 current
- 2005-present Supervisor of 47 master students (17 of which started PhD afterwards)
Teaching Activities
- 2017-present The Cell IV: Molecular Biology and Genetics, 1st Bachelor of Medicine, UGent
- 2016-present Genome Diagnostics, Postgraduate Genetic Counseling, UGent
- 2007-2010 Interuniversity Permanent Education Course in Human Genetics. Co-lecturer
- 2009-present Developmental Genetics and Gene Regulation, 1st Master of Biomedical Sciences, UGent
- 2009-2016 Capita Selecta of Hospital Medicine, 4th Master of Medicine, UGent. Co-lecturer
- 2003-present Human Genetics, 3rd Bachelor of Biomedical Sciences, UGent
Institutional Responsibilities
- 2018-present Team leader research, Department of Biomolecular Medicine (GE31)
- 2018-present Member of the internal committee for fast-track promotion to full professor (3x)
- 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
- 2013-present Member of the gamma working group of the Research Council, UGent
- 2011-2019 Member of the PhD Committee of the Faculty of Medicine and Health Sciences
Reviewing activities - Commissions of Trust
- 2024-present Member of the Programme Committee of the ASHG
- 2023-present Editorial Board Member of Progress in Retinal and Eye Research (top 1 in Ophthalmology)
- 2022-present Member of the Swiss National Research Council (SNSF), Div. Biology and Medicine
- 2023 Member of HCERES Evaluation Panel CRC-SVE6 Paris, France
- 2023 Member of the Scientific Advisory Board of Institut de la Vision, Paris, France
- 2022-present Member of the Estonian Research Council (ETAg), Panel Medical & Health Sciences
- 2022-present Chair of the ClinGen ABCA4 Variant Curation Expert Panel
- 2021-present Member of the ClinGen Ocular/Retina Executive Committee
- 2021-present Member of the ClinGen Retina Gene Curation Expert Panel
- 2020-present Chair of TWG6 (Genetic diagnostics) of ERN-EYE
- 2019-present Communicating Editor Human Mutation
- 2018-present Editorial Board Member of Genes
- 2018-present Management Board of the European Retinal Disease Consortium (ERDC)
- 2018-2022 Foundation Fighting Blindness (FFB) Scientific Advisory Board (SAB)
- 2018-2022 Elected member of the Scientific Program Committee (SPC) of the European Society of Human Genetics (ESHG)
- 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)
- 2016-present Editorial Board Member Nature Scientific Reports, section Genetics and Genomics
- 2014-2019 Member of expert panel Med2 Genetics, Functional Genome Research, Bio-informatics, Developmental Biology of the Research Foundation Flanders FWO
Memberships of Scientific Societies
- American Society of Human Genetics (ASHG), Association for Research in Vision and Ophthalmology (ARVO), Belgian Society of Human Genetics (BeSHG), European Soc. of Human Genetics (ESHG), International Soc. for Eye Research (ISER)
Organisation of Scientific meetings (selection from last 5 years)
- 2024 Session ‘Epigenomics and non-coding variation’. ISER, October 20-24, Buenos Aires, ARG
- 2023 Workshop ‘Challenges in Genomic and Personalised Medicine’. ERN-EYE, December 7-8, Strasbourg, FR
- 2023 Session ‘Genomics and functional genomics: Informing IRD genetics and therapies’. ISER, February 19-23, Gold Coast, Queensland, Australia
- 2022 RARE-MED Symposium. December 8, Ghent, Belgium
- 2022 Symposium ‘Non-coding RNAs in biology & disease’. ESHG, June 11-14, Vienna, Austria
- 2021 Workshop ‘Models of rare eye diseases’. ERN-EYE, November 25-26, Dublin, Ireland
- 2021 Invited symposium ‘Enhanceropathies’. ESHG, June 12-15, virtual
- 2021 Invited symposium ‘Ciliopathies’. ESHG, June 12-15, virtual
- 2021 Platform and poster sessions for the BI section (as chair). ARVO, May 1-7, virtual
- 2021 Symposium ‘Transcriptional Dynamics in Eye Development and Disease’. ARVO, May 1-7, virtual
- 2020 RARE-MED Kick-off Symposium, November 27, virtual
- 2020 Symposium ‘Beyond Mendelian inheritance’. ESHG, June 6-9, virtual
- 2019 Platform and poster sessions for BI section. ARVO, April 28 – May 2. Vancouver, Canada
- 2019 Symposium ‘Regulatory landscapes’. ESHG, June 15-18. Gothenburg, Sweden
- 2019 Symposium ‘RNA mis-splicing’. ESHG, June 15-18. Gothenburg, Sweden
- 2019 Session ‘Understanding human disease through animal models’. ESHG. Gothenburg, Sweden
Major Collaborations
INTERNATIONAL
- European Retinal Disease Consortium (ERDC), collaborating on genetic/genomic/clinical IRD research. Key collaborators: Frans Cremers, Carlo Rivolta, Susanne Kohl, Rob Collin, Susanne Roosing, Andrew Webster, Gavin Arno, Sandro Banfi. See www.erdc.info | European Reference Network for Rare Eye Diseases (ERN-EYE), 2017-present: EU experts in rare eye diseases join forces in a European Reference Network to break the barriers of an early diagnosis, patient management & research. See www.ern-eye.eu | StarT, 2018-2023, MSCA-DN with 10 partners to diagnose, understand and treat Stargardt Disease. Key collaborators: Juan Ramón Martínez Morales, Juan Tena. See www.startn.eu | Solve-RET, 2020-2024: EJP RD consortium, aiming at solving missing heritability in IRD using -omics and cellular and animal models. | ProgRET, 2024-2027: MSCA-DN with 8 partners and 5 partner organisations to Understand, Diagnose and Treat Autosomal Dominant Retinal Diseases. Key collaborator: Viki Kalatzis, iPSC-RPE, NR2E3 G56R. See www.progret.eu | RPE65-IRD Michael Redmond (NIH/NEI, USA).
- UGent Bart P. Leroy, clinical IRD research. Lieven Clement, statistical genetics, transcriptomics. Kris Vleminckx, developmental biology, Xenopus modelling. Björn Menten, long-read sequencing, single-molecule and single-cell multi-omics. Sarah Vergult, human stem cells, gene regulation, multi-omics; Frauke Coppieters, retinal stem cells, RNA biology, RNA therapeutics.
Key Publications
- Van de Sompele S, Small KW, Cicekdal MB, López Soriano V, D'Haene E, Shaya FS, Agemy S, Van der Snickt T, Dueñas Rey A, Rosseel T, Van Heetvelde M, Vergult S, Balikova I, Bergen AA, Boon CJF, De Zaeytijd J, Inglehearn CF, Kousal B, Leroy BP, Rivolta C, Vaclavik V, van den Ende J, van Schooneveld MJ, Gómez-Skarmeta JL, Tena JJ, Martinez-Morales JR, Liskova P, Vleminckx K, De Baere E. Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy. Am J Hum Genet 2022 Nov 3;109(11):2029-2048. Epub 2022 Oct 14. doi: 10.1016/j.ajhg.2022.09.013. PMID: 36243009. Awarded with AJHG Award for Outstanding Trainee Publication (ASHG 2023)
- Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Dueñas Rey A, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S , Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF , Langmann T, Dannhausen K , Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F , Nürnberg P, Thiele H, Zechner U, Pearring JN* , De Baere E*, Bolz HJ*. CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156. PMID: 36862503. *: equal contribution
- Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, Khan M, Sadler F, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, De Leeneer K, De Jaegere S, Van Laethem T, De Vries M, Carss K, Arno G, Fakin A, Webster AR, de Ravel de l'Argentière TJL, Sznajer Y, Vuylsteke M, Kohl S, Wissinger B, Cherry T, Collin RWJ, Cremers FPM, Leroy BP, De Baere E. ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants. Genet Med. 2019 Jan 23. doi: 10.1038/s41436-018-0420-y. Epub ahead of print. PMID: 30670881.
- Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, Bauwens M, De Bruyne M, 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. 2016 Aug 4;99(2):470-80. doi: 10.1016/j.ajhg.2016.06.017. PMID: 27486781.
- D'haene E*, López-Soriano V*, Martínez-García PM*, Kalayanamontri S, Rey AD, Sousa-Ortega A, Naranjo S, Van de Sompele S, Vantomme L, Mahieu Q, Vergult S, Neto A, Gómez-Skarmeta JL, Martínez-Morales JR*, Bauwens M*, Tena JJ*, De Baere E*. Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci. Genome Biol. 2024 May 17;25(1):123. doi: 10.1186/s13059-024-03250-6. PMID: 38760655. *: equal contribution
- López Soriano V*, Dueñas Rey A*, Mukherjee R, Genomics England Research Consortium, Coppieters F, Bauwens M, Willaert A, De Baere E. Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci. Nat Commun. 2024 Feb 21;15(1):1600. doi: 10.1038/s41467-024-45381-1. PMID: 38383453. *: equal contribution
- Cherry TJ, Yang MG, Harmin DA, Tao P, Timms AE, Bauwens M, Allikmets R, Jones EM, Chen R, De Baere E, Greenberg ME. Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease. Proc Natl Acad Sci U S A. 2020 Apr 7:201922501. doi: 10.1073/pnas.1922501117. Epub ahead of print. PMID: 32265282.
International invited presentations (last 2 years)
2024 ISER 2024 Buenos Aires, Argentina; NIH/NEI seminar (hosts: A. Swaroop, M. Redmond), Bethesda, USA; Choroideremia Research Foundation CRF, Montpellier, France | 2023 ERN-EYE. Strasbourg, France; EVER 2023. Valencia, Spain; EPOS. Leuven, Belgium; EURETINA, Amsterdam, The Netherlands; i3S. Porto, Portugal; ESHG-EMQN. Glasgow, UK; UK Eye Genetics Meeting (UK-EGG), Edinburgh, UK; ERN-EYE virtual; I3h Symposium Rare Diseases. Brussels, Belgium; ARVO. Symposium: Epigenetics in ocular health & disease. New Orleans, USA; Children's Medical Research Institute, Sydney, Australia; ISER XXV, Invited Session, Gold Coast, Australia; Portuguese Society of Human Genetics, Coimbra, Portugal.
Education
- 2018 Recognition in Clinical Genetics, Flemish Ministry, Agency Care & Health, Belgium
- 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
Career breaks
2001 (4 months), 2003 (4 months), 2012 (4 months). Maternity leave.
Lab Totem
Insightful Bird-of-paradise - Pientere Paradijsvogel |
This beautiful songbird has a beautiful, colorful plumage. He is proud, but does not brag with his talents, to avoid jealousy. The bird of paradise is brave. The bird of paradise does not fear competition and is caring for his offspring.
Characteristics: competitive, brave, colorful, proud, caring |