This presentation explains genetic testing of the USH2A gene, as conducted at the Radboud University Medical Center in Nijmegen, Netherlands. The type of DNA defects found in this gene is illustrated, along with their predicted effects on the usherin protein and also methods and problems in the evaluation of potentially deleterious DNA variants.

...

Speaker Bio:

Hannie Kremer is the head of the Otogenetics Research Unit in the Hearing & Genes Expert Center (Radboudumc, Nijmegen, The Netherlands). Her research group found that the USH2A gene is much larger than initially determined and importantly contributed to the current insights in the function of Usher proteins in multi-protein complexes in photoreceptor cells as well as hair cells of the inner ear which explains the co-occurrence of retinal degeneration and hearing impairment. Besides on the genetics of Usher syndrome, the current research of Hannie Kremer focuses on the understanding of hereditary deafness. In combination with her extensive research on genotype-phenotype correlations, this has a major impact on molecular diagnostics of deafness and counseling of families. Hannie Kremer received her Master’s degrees in Biology from the Radboud University Nijmegen and her PhD from the same University on molecular genetics in Drosophila. As a postdoctoral researcher she changed her research field to human genetics.