Genetic testing and treatment of individuals with defects of the USH2A gene

Thursday 6 April 2023, 12:30 pm
J.A. Reurink
prof. dr. J.M.J. Kremer, prof. dr. F.P.M. Cremers
dr. H.A.R. van Wyk, dr. ing. S. Roosing

Autosomal recessive retinitis pigmentosa and Usher syndrome are two clinically and genetically heterogeneous disorders. A substantial portion of cases can be explained by defects in the USH2A gene. It is estimated that ~20% of these cases still do not receive a conclusive genetic diagnosis, thereby also lacking a refined prognosis and the opportunity to receive potential future gene- or mutation-based treatments. Several methods, such as DNA analysis, analysis of consequences of mutations and generation of a zebrafish model, were employed to identify missing genetic defects in cases with suspected USH2A-associated disease.

Eighty-two out of 139 cases that were genetically screened received a (likely) genetic diagnosis in this thesis, a therapeutic strategy was developed targeting four specific genetic defects, the pathogenicity of a recurrent defect in USH2A was corroborated, and it was confirmed that defects in ARSG indeed cause Usher syndrome type 4.

Janine Reurink (1992) obtained her Master's degree in Biomedical Sciences from Groningen university in 2017. She then started working as a junior scientist at HZPC Holland BV. In 2018, she started her PhD at the department of Human Genetics at the Radboud university medical center. She currently works as a postdoctoral researcher at the department of Otorhinolaryngology of Radboud university medical center.