Ophthalmogenetics

Head of the section: Prof. Arthur Bergen

OPHTHALMOGENETICS

Pre-clinical Research to Develop Novel Treatments for Hereditary Eye Diseases

The section Ophthalmogenetics mainly focuses on innovative pre-clinical research to develop novel treatments. In collaboration with the Ophthalmology department of Amsterdam UMC, we perform DNA diagnostics for patient care and educate the next generation of clinicians and scientists.

Hereditary eye diseases

Most hereditary eye diseases are characterized by a progressive deterioration of vision ending in blindness and have no cure. There are medicines or minor surgical procedures available that can slow the process. However, there is a great need for new treatments and medicines that improve the vision – and thus the quality of life – of patients.

“Our focus is to elucidate the complex genetics of ophthalmogenetic disorders and to develop rational, genomics-driven diagnostics and therapies.” – Prof. Arthur Bergen

In our laboratory, we have initiated a state-of-the-art research line following the principle ‘from gene to patient and back’. With the help of a skin biopsy or a blood sample from a patient, we derive stem cells, which we then culture and examine to increase our understanding of genetic eye diseases. We also apply these stem cells to create the different cell types of the retina. By combining these cell types, 2D and 3D cultures are established. A powerful new development is that we now can create these ‘composite cultures’ with a state-of-the-art 3D cellular bioprinter.

In this way, we gather all the necessary knowledge and expertise that ultimately contributes (and has already led) to experimental stem cell therapy, gene therapy, and clinical trials for various genetic eye diseases.