|
Inherited retinal diseases (IRD) cause early-onset blindness, impacting over two million individuals globally. These monogenic disorders exhibit significant clinical and genetic heterogeneity, with over 260 identified disease genes.
|
In this multidisciplinary field we currently focus on genomics, proteomics, epigenomics, transcriptomics and how to integrate these data. By generating vast amounts of data, OMICS technologies provide detailed insights into the molecular mechanisms of health and disease.
|
Genetic developmental disorders typically result from coding genome variants, leading to conditions such as infertility and intersex traits. Precise expression of development-related genes is critical and governed by the regulatory genome, which remains not yet fully understood.
|