Center for Anatomy and Cell Biology, Department of Otorhinolaryngology
Position: Associate Professor
ORCID: 0000-0002-7817-5789
thomas.parzefall@meduniwien.ac.at
Keywords
Genetics; Hearing Disorders; Hearing Loss; Personalized Medicine; Rare Diseases
Research interests
Most rare diseases have a genetic origin or are influenced by genetic variants. Our goal is to lay the groundwork for improved diagnostics and new therapeutic approaches for rare diseases within ENT care by deciphering the molecular genetic background of disease.
Techniques, methods & infrastructure
We investigate the molecular basis of rare ENT diseases using genetic and genomic analysis methods. To characterize new genetic variants and their effects on various tissues, we employ bioinformatics and molecular biology methods, as well as genotype-phenotype analyses in affected patients.
Selected publications
- Krumpoeck, P.E. et al. (2026) “Multicenter Natural History Study and Long-Term Cochlear Implant Outcomes in Usher Syndrome Subtypes,” Ear & Hearing [Preprint]. Edited by . Available at: https://doi.org/10.1097/aud.0000000000001822.
- Frohne, A. et al. (2024) “Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria,” European Archives of Oto-Rhino-Laryngology. Edited by , 281(7), pp. 3577–3586. Available at: https://doi.org/10.1007/s00405-024-08492-5.
- Frohne, A. et al. (2022) “A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation,” Human Genetics. Edited by , 142(8), pp. 1077–1089. Available at: https://doi.org/10.1007/s00439-022-02506-0.
- Parzefall, T. et al. (2017) “Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation,” European Archives of Oto-Rhino-Laryngology. Edited by , 274(10), pp. 3619–3625. Available at: https://doi.org/10.1007/s00405-017-4699-0.
- Parzefall, T. et al. (2020) “A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation,” Frontiers in Cellular Neuroscience. Edited by , 14. Available at: https://doi.org/10.3389/fncel.2020.585669.