|
|
FIELD OF EXPERTISE
- Rare kidney disease
- CRISPR genome editing
- Zebrafish
PROJECTS
Background
With the emergence of Next-Generation Sequencing (NGS) technologies, the number of variants associated with rare genetic diseases is growing at a tremendous rate. Although rare diseases collectively affect an estimated 36 million people in the European Union and are predominantly genetic in origin (approximately 80%), a large proportion of the detected variants remain of unknown significance. This poses a major challenge for genetic diagnosis, particularly in patients with kidney disease, where the genetic basis often remains elusive. Functional validation of rare variants is essential to confirm their role in disease causation, guide clinical decision-making, and improve genetic counselling. However, the lack of suitable experimental models limits our ability to assess variant pathogenicity and understand disease mechanisms in vivo.
Aim
The aim of this project is to develop zebrafish as an in vivo model to functionally assess rare missense variants identified in patients with kidney disease. The goal is to determine whether these variants are causative of the observed phenotype, thereby supporting accurate diagnosis and improved genetic counselling.
Strategy
We will use CRISPR prime editing to introduce patient-specific missense mutations into the zebrafish genome and evaluate the pathogenicity of the tested variants through phenotypic and molecular analyses.
With the emergence of Next-Generation Sequencing (NGS) technologies, the number of variants associated with rare genetic diseases is growing at a tremendous rate. Although rare diseases collectively affect an estimated 36 million people in the European Union and are predominantly genetic in origin (approximately 80%), a large proportion of the detected variants remain of unknown significance. This poses a major challenge for genetic diagnosis, particularly in patients with kidney disease, where the genetic basis often remains elusive. Functional validation of rare variants is essential to confirm their role in disease causation, guide clinical decision-making, and improve genetic counselling. However, the lack of suitable experimental models limits our ability to assess variant pathogenicity and understand disease mechanisms in vivo.
Aim
The aim of this project is to develop zebrafish as an in vivo model to functionally assess rare missense variants identified in patients with kidney disease. The goal is to determine whether these variants are causative of the observed phenotype, thereby supporting accurate diagnosis and improved genetic counselling.
Strategy
We will use CRISPR prime editing to introduce patient-specific missense mutations into the zebrafish genome and evaluate the pathogenicity of the tested variants through phenotypic and molecular analyses.
DEGREES
- Master’s degree in Biochemistry and Molecular and Cellular Biology (Liège University, 2024)
- Bachelor’s degree in Chemistry – Biochemistry (Haute Ecole de la Province de Liège, 2021)