Prof. Elfride De Baere
- Senior Full Professor
- Head of the Ophthalmic and Developmental Genetics lab
- Teamleader Research
Contact
Campus UZ, C. Heymanslaan 10, MRB1 (entrance 34), 9000 Ghent
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Personalia
Biography
- 2010 - present: Head of Clinic - Center for Medical Genetics
- 2009 - present: Professor - Ghent University
- 2003 - 2009: Postdoc - Ghent University
- 2002: PhD - Ghent University
- 1996: Master Medical Sciences - Ghent University
Member of
- Center for Medical Genetics Ghent
- American College of Medical Genetics and Genomics
- American Society of Human Genetics
- European Reference Network dedicated to Rare Eye Diseases
- RARE-MED consortium
- StarT Marie Curie Innovative Training Network
Research tracks
Expertise
- Inherited retinal diseases
- Inherited blindness
- Genetic eye diseases
- Induced pluripotent stem cells
- Cellular models
- Animal models
- Xenopus
- Gene editing
- Gene therapy
- Antisense oligonucleotide therapy
- CRISPR/Cas9
- Transcription factors
- Gene regulation
- Enhancers
- Enhanceropathies
- Structural variants
- 3D Genome
- Chromosome conformation capture
- Human molecular genetics
- Genomics
- Functional genomics
- Clinical genomics
- Transcriptomics
- Cis-regulation
Publications
Key publications
- Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. (2019) Genetics in Medicine.
- Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and non-coding copy number variations. (2018) Genetics in Medicine.
- Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination. (2016) American Journal of Human Genetics.
- 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. (2017) Genetics in Medicine.
- Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. (2013) PLOS Genetics.