Mette Bertelsen Vardrup

Mette Bertelsen Vardrup is a Clinical Associate Professor in the Department of Clinical Medicine at the University of Copenhagen and a clinical geneticist at the Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet. She serves as clinical coordinator and leads Ophthalmogenetics and Audiogenetics programs at the hospital, integrating clinical practice with academic research in medical genetics.

Her research centers on genetic mechanisms of sensory disorders, with dual focus on hereditary eye conditions (including inherited retinal diseases, optic nerve atrophy, congenital cataracts, and glaucoma) and genetic hearing impairment (both syndromic and non-syndromic forms). This work bridges ophthalmology, audiology, and molecular genetics to develop precision diagnostic approaches for complex sensory disorders.

Analysis of her 43 research outputs reveals consistent emphasis on genomic characterization of rare disorders, particularly retinitis pigmentosa variants, optic disc drusen, and achromatopsia. Her recent publications (2023-2025) demonstrate methodological integration of whole-genome sequencing, detailed phenotyping, and biomarker discovery across international collaborations, with significant contributions to understanding genotype-phenotype correlations in Danish patient cohorts.