One goal is to identify the pathogenic processes that determine the variability in severity in different forms of the disorders as Osteogenesis Imperfecta and Marfan syndrome which will be crucial to develop targeted treatments. To achieve these goals we will use patients and zebrafish models.

A second goal is to explore if couples who wish to have children can find out if they have an increased risk of having a child with a recessive disorder through carrier screening. The Belgian genetic centers developed BeGECS (Belgian Genetic Expanded Carrier Screening), which analyzes more than 1,700 recessive genes. Over 700 couples were analyzed at the Centrum Genetica Gent; this showed that ~3% have a risk of having a child with a severe recessive disorder. At present, BeGECS is only offered through a genetic consultation. We want to investigate whether offering BeGECS by general practitioners and/or gynecologists could be a feasible approach to implement this test in the broad population.