Research group Molecular therapies for otogenetic disorders

Aims

1. Developing RNA therapies for otogenetic disorders
2. Developing personalized ‘n-of-1’ treatments for ultra-rare variants
3. Improving delivery of therapeutic molecules to the inner ear
4. Generation and characterization of innovative models for otogenetic disorders
5. Unraveling regeneration pathways in zebrafish

Publications

See the publication list of the research group leader on Web of Science.

• A selection of our publications

  • Dulla K, Slijkerman RW, Van Diepen H, Albert S, Dona M, Chan H, Schulkens I, Beumer W, Vorthoren L, Den Besten C, Buil L, Schmidt I, Turunen J, Miao J, Venselaar H, Zang J, Neuhauss S, Peters TA, Broekman S, Pennings RJE, Kremer H, Adamson P, De Vrieze E and Van Wijk E (2021). Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations. Molecular Therapy, S1525-0016(21)00212-4. doi: 10.1016/j.ymthe.2021.04.024. 
  • Reurink J, de Vrieze E, Li CHZ, van Berkel E, Broekman S, Aben M, Peters T, Oostrik J, Neveling K, Venselaar H, Ramos MG, Gilissen C, Astuti GDN, Galbany JC, van Lith-Verhoeven JJC, Ockeloen CW, Haer-Wigman L, Hoyng CB, Cremers FPM, Kremer H, Roosing S, van Wijk E (2022). Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant. NPJ Genom Med, 7(1):37. doi: 10.1038/s41525-022-00306-z.
  • De Vrieze E, Peijnenborg J, Cañas Martin J, Martens A, Oostrik J, Van der Heuvel S, Neveling K, Pennings R, Kremer H, van Wijk E (2021) Antisense oligonucleotide-based downregulation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9. Mol Ther Nucleic Acids, 24:274-283. 
  • Schellens RTW, Broekman S, Peters T, Graave P, Malinar L, Venselaar H, Kremer H, De Vrieze E, Van Wijk E (2023). A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa. Mol Ther Nucleic Acids, 32:980-994. doi: 10.1016/j.omtn.2023.05.020. 
  • Hendricks JM, Metz JR, Velde HM, Weeda J, Hartgers F, Yzer S, Hoyng CB, Pennings RJE, Collin RWJ, Boss MHM, de Vrieze E, van Wijk E (2023) Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a. Ophthalmol Sci, 3(4):100323. doi: 10.1016/j.xops.2023.100323
  • Van Wijk, E., Pennings, R.J., Te Brinke, H., Claassen, A., Yntema, H.G., Hoefsloot, L.H., Cremers, F.P.M., Cremers, C.W., Kremer, H. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II (2004). Am. J. Hum. Genet. 74(4):738-744 
  • Dona M, Slijkerman R, Lerner K, Broekman S, Wegner J, Howat T, Peters T, Hetterschijt L, Boon N, de Vrieze E, Sorusch N, Wolfrum U, Kremer H, Neuhauss S, Zang J, Kamermans M, Westerfield M, Phillips J, van Wijk E (2018). Usherin defects lead to early-onset retinal dysfunction in zebrafish. Exp Eye Res, 173:148-159. 
  • Stemerdink M, Riepe T, Zomer N, Salz R, Kwint M, Oostrik J, Timmermans R, Ferrari B, Ferrari S, Dueñas Rey A, Delanote E, de Bruijn SE, Kremer H, Roosing S, Coppieters F, Hoischen A, Cremers FPM, 't Hoen PAC, van Wijk E, de Vrieze E (2025). Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches. Genome Res. 35(4):725-739. doi: 10.1101/gr.280060.124.
  • Stemerdink M, Malinar L, Broekman S, Peters T, Ensink I, Ivanchenko MV, Venselaar H, Kremer H, de Vrieze E, van Wijk E (2025). Exploring exon excision as a therapeutic intervention strategy for the future treatment of ADGRV1-associated retinitis pigmentosa. Mol Ther Nucleic Acids. 36(4):102702. doi: 10.1016/j.omtn.2025.102702. 
  • Hendricks JM, Metz JR, Boss HM, Collin RWJ, de Vrieze E, van Wijk E (2025). Actigraphy-based assessment of circadian rhythmicity and sleep in patients with Usher syndrome type 2a: A case-control study. J Sleep Res. 34(4):e14456. doi: 10.1111/jsr.14456.

Alumni

• Hannie Kremer
• Margo Dona
• Ralph Slijkerman
• Renske Schellens
• Janine Reurink
• Lisette Hetterschijt
• Ferry Kersten
• Fien Aben
• Heleen te Brinke