Last application date Jul 11, 2025 00:00
Department GE31 - Department of Biomolecular Medicine
Contract Limited duration
Degree Master in Life Sciences (e.g. M.Sc. in Biomedical Engineering, M.Sc. in Biochemistry and Biotechnology, M.Sc. in Biomedical Sciences, M.Sc. in Molecular Life Sciences, M.Sc. in Bioinformatics, M. Sc. in Pharmaceutical Sciences, …)
Occupancy rate 100%
Vacancy type Research staff
Job description
Inherited retinal disease is a major cause of early-onset vision loss or blindness that is at the forefront of gene therapy development. Although thousands of variants have been identified in 300+ disease genes, a third of patients remains genetically unsolved. This project will focus on understudied genome elements potentially implicated in disease pathogenesis, namely translation-regulatory elements and proteoforms. Translation-regulatory elements typically reduce translation of the primary coding sequence, whereas proteoforms are different protein isoforms translated from the same gene. This project aims to enhance both molecular diagnosis and genetic therapies by the delineation of novel translation-regulatory elements and proteoforms that could harbour yet undiscovered pathogenic variants and represent novel therapeutic targets, respectively.
To this end, we will perform cutting-edge proteomics analyses on post-mortem human retinal tissues and use bioinformatics and deep learning tools to integrate it with complementary omics datasets to identify novel translation-regulatory elements and proteoforms. Next, a selection of these elements will be functionally validated through cellular, functional and activity assays. Novel translation-regulatory elements and proteoforms will then be investigated on the presence of potential causal variants in both in-house and international patient cohorts (e.g. through access of the Genomics England genomes). Finally, the most potent translation-regulatory elements will be assessed as novel therapeutic targets. To this end, we will design and evaluate antisense oligonucleotides (ASOs) to provide steric hindrance to these elements and as such increase translation of the primary open reading frame. ASO evaluation will be performed in vitro using cell lines as well as on patient-derived retinal cultures. In contrast to current ASO strategies that are mostly variant/exon specific, this novel approach has the potential to treat large patient cohorts, independent of the causal variant.
Overall, this project is expected to reveal novel scientific insights in translational regulation and diversity in retinal protein functions, which has never been investigated before. Delineation and understanding of novel regulatory elements and proteoforms will potentially contribute to new molecular diagnoses and genetic therapies for inherited blindness.
The candidate will be embedded in
1) the Therapy and RNA Group Ghent (www.target-ugent.be), a young and dynamic research group that aims to develop novel treatments for rare diseases and is part of the Center for Medical Genetics Ghent (www.cmgg.be/en)
2) the Proteomics Lab (https://gevaertlab.sites.vib.be), which focusses on cutting-edge proteomic technologies and is part of the VIB-UGent Center for Medical Biotechnology (https://cmb.sites.vib.be).
Through this multidisciplinary team, the candidate will have access to state-of-the-art technologies (massive parallel sequencing, mass spectrometry-based proteomics, high-performance computing infrastructure and data science training) as well as patient resources (large genome sequencing datasets, post-mortem retinal tissues of healthy donors, iPSCs and retinal cultures from patients).
Job profile
- You hold or will hold a Master’s degree in Life Sciences as specified above. Students in their final year are also eligible to apply.
- You are highly motivated and have a strong interest in scientific research.
- You have excellent communication skills in English, both written and spoken.
- You have excellent analytical and problem-solving skills, and are interested in both wet-lab work and bioinformatics. Expertise in one or more of the following techniques is considered an advantage: cell culture, cloning, cell-based functional assays, proteomics.
- You will combine coding with biological insights to investigate and integrate complex omics data. Therefore, knowledge of programming languages such as Python or R is necessary and prior experience with data science, high-throughput omics, Linux command line, machine learning and statistics, is a plus.
- You are stress-resistant and flexible, with strong organizational skills.
- You can work autonomously as well as in a team.
WHAT WE OFFER YOU
- We offer a full-time position as a doctoral fellow, consisting of an initial period of 12 months, which - after a positive evaluation, will be extended to a total maximum of 48 months.
- You will be part of a larger multidisciplinary team and consortium (RARE-MED) focusing on genetics and novel therapies for rare disorders.
- Your contract will start on September 1, 2025 at the earliest.
- The fellowship amount is 100% of the net salary of an AAP member in equal family circumstances. The individual fellowship amount is determined by Team Personnel Administration based on family status and seniority. A grant that meets the conditions and criteria of the regulations for doctoral fellowships is considered free of personal income tax. Click here for more information about our salary scales.
- All Ghent University staff members enjoy a number of benefits, such as a wide range of training and education opportunities, 36 days of holiday leave (on an annual basis for a full-time job) supplemented by annual fixed bridge days, bicycle allowance and eco vouchers. Click here for a complete overview of all the staff benefits.
How to apply
Please send the following documents to prof. Frauke Coppieters ([email protected]), prof. Kris Gevaert ([email protected]) and dr. Daria Fijalkowska ([email protected]) by the 11th of July 2025:
- CV
- Motivation letter (max. 1 page)
- A copy of your diploma (if already available) and study results
- Contact details of at least two referents
For more information, please contact prof. Frauke Coppieters by email ([email protected]).
