dr. Stefanie Maes (PhD)

My research focuses on the development and optimization of workflows for multiplexed assays of variant effect (MAVEs) to support the interpretation of variants of uncertain significance (VUS) in hereditary diseases, including inborn errors of immunity and hereditary cancer syndromes. MAVEs enable large-scale functional characterization of genetic variants, generating evidence that can contribute to more accurate variant classification and improve our understanding of disease-causing mechanisms.

Within the field of cancer genetics, we currently focus primarily on homologous recombination (HR) genes such as BRIP1, which is associated with hereditary breast and ovarian cancer susceptibility. By systematically evaluating the functional impact of genetic variants, this research aims to improve the interpretation of HR gene variants in hereditary cancer diagnostics. Ultimately, these efforts contribute to more accurate risk assessment, informed genetic counseling, and optimized clinical management.
 

• 2023: PhD (Ghent University, Ghent, Belgium)
   

• Lab address: VIB-UGent Center for Medical Biotechnology, Technologiepark-Zwijnaarde 75, B-9052 Gent
• Eyckerman Lab
• VIB-UGent Center for Medical Biotechnology
• Stefanie Maes is interested to receive invitations for talks or presentations