Prof. Frauke Coppieters
- Assistant Professor
- Principal investigator of the Therapy and RNA Group GhenT (TaRGeT)
Contact
Campus UZ, C. Heymanslaan 10, Blok B (entrance 36), 9000 Ghent
Postal address: Campus UZ, C. Heymanslaan 10, MRB1 (entrance 34), 9000 Ghent
E-mail | LinkedIn | X (Twitter) | UGent Research Explorer | ORCID
Personalia
Biography
- 2022 - current: member of steering committee of GATE
- 2019 - current: assistent professor (tenure track) within RARE-MED, a multidisciplinary consortium for basic and translational research on precision medicine for rare diseases.
- 2015 - current: co-founder and CEO of pxlence
- 2018 - 2019: Scientific coordinator of the NucleUZ Platform for Medical Innovation: "Precision medicine for rare and inherited disorders" - Ghent University Hospital
- 2011 - 2018: Post-doctoral researcher, Research Foundation - Ghent University
- 2011: PhD in Biomedical Sciences (Identification and characterization of molecular defects underlying retinal dystrophies) - Ghent University
- 2005: Master in Biomedical Sciences
Member of
- Center for Medical Genetics Ghent
- RARE-MED
- GATE
- European Retinal Disease Consortium (ERDC)
- StarT
- ProgRET
Research tracks
Expertise
- Inherited retinal dystrophies: molecular genetics, disease pathogenesis
- Massively parallel sequencing: library preparation, sequencing and data-analysis
- Non-coding RNA
- Gene therapy
Publications
Key publications
- Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci (2024) NATURE COMMUNICATIONS. 15(1).
- Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease (2024) GENOME MEDICINE. 16(1).
- Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility (2020) HUMAN MUTATION. 41(5). p.998-1011
- Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination (2016) AJHG. 99(2). p.470-480
- Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa (2007) AJHG. 81(1). p.147-157