In her project, she will study the eye disease Retinitis Pigmentosa (RP), which is a genetic disease leading to vision loss and blindness, often at a young age. RP can be caused by various mutations in more than 80 different genes. Today the only available treatment is gene therapy, however, this is limited to one specific gene mutation, leaving the remaining mutations untreatable.
The assistant professor explains, "I hope that my work will lead to the development of new molecules or gene therapies that can either slow down the progression of RP or cure it in the future. I can also see great potential in the model for testing the efficacy of new treatments. But the first step is to get more knowledge about the disease, and getting a Sapere Aude grant to support this fundamental research is a great step towards that goal."
Anne and her team will develop a model to study this debilitating disease. In the lab, the researchers will grow organoids (eye models) from stem cells - derived from patient blood samples - to study the cell types that are involved in RP. The aim is to get a better understanding of the biological consequences of the mutations in the cells.
"Getting a Sapere Aude grant feels like a seal of approval for my research, and I am looking forward to starting up the RP disease models in our lab. I think this is a wonderful starting point for building my own research group to explore cell-based disease models focusing on eye diseases," Anne Zebitz Eriksen finishes.
Project title: Development of whole Eye organoids, as a disease model of retinitis pigmentosa
