Genetics of Fertility Impairment and Hearing Loss

Led by Dr. Marry van den Heuvel-Eibrink of the Prinses Maxima Centrum (PMC), genetic samples have been collected from pan-European cohorts and analysed through a Genome Wide Association Study (GWAS). The genetics team includes Dr. Oliver Zolk at the University of Ulm and Dr. Linda Broer, Eva Clemens and Anne-Lotte van der Kooi at the Erasmus Medical Centre (EMC). Known genetic risk factors for female fertility impairment will be investigated and novel genetic risk factors for fertility impairment and hearing loss will be identified. Analyses will include both cohort and case-control approaches. Survivors in the genetic studies will come from Germany, Switzerland, Italy, the Netherlands, France, Norway and the Czech Republic.

In the first two years of the project, the WP4 team worked to identify what survivor information they needed for the genetic studies of female fertility and hearing impairment, working with the data centre (WP1) and researchers in the fertility (WP3), hearing impairment (WP5) and quality of life (WP6) teams to identify common information and the best way to collect it. The WP4 team also worked closely with their data providers to obtain ethical approval to use survivor information for the project and to assess what number of survivors would be eligible for PanCareLIFE. In year three of the project, the WP4 team finalised the array that will be used to perform the genetic analysis and supported their data providers as they collected and sent data to the data centre. They also collected DNA samples and performed initial quality checks. In year four, the team at EMC analysed 1,421 DNA samples using state-of-the-art genetic arrays (Illumina Global Screening Array). In the final year of the project, the WP4 team will combine the results of the genetic analysis with other survivor data from the data centre to examine genetic risk factors for fertility impairment and inner ear problems.

Genetic Analysis

(Left: DNA samples arrive in the laboratory,  A.L. van der Kooi, E. Clemens; Right: Sample analysis underway, A.L. van der Kooi, E. Clemens, M. van Dijk)

Data Providers