Ophthalmic Genetics Group

The Ophthalmic Genetics group pursues an ambitious interdisciplinary research program. They focus on discovering the genetic cause of monogenic and genetically complex ophthalmic disease. The research team is particularly interested in defining the mutational landscape of retinal ciliopathies, which they believe to be the most prevalent cause for hereditary blindness in Switzerland and, in general, in Europe.

Their research includes exploration of modifier genes and their effects on therapies, the development of mathematical theories of visual function, and the creation of computational tools for elucidating the genetic bases of vision loss. This is an important cornerstone for IOB to generate an atlas of gene expression patterns in every cell type of the human eye.

The Ophthalmic Genetics group comprises considerable expertise in genetic investigation, particularly in high-throughput techniques such as parallel genotyping and Next-Generation Sequencing (NGS), as well as in disease gene identification, computational and in-silico methods. 

They interact closely with the Visual Neurophysiology Research Group in the IOB Clinical Research Center, and they contribute to the genetic profiling of patients in the Basel University Eye Clinic and Department of Ophthalmology in the University Hospital.

Group Leader: Carlo Rivolta