Dr. Aleksander Tworak from UCI Center for Translational Vision Research Awarded $90,000 Knights Templar Eye Foundation Grant for MERTK Gene Research

Dr. Aleksander Tworak from the UCI Center for Translational Vision Research, Gillespie Neuroscience Research Facility located in Irvine, California was awarded a $90,000 grant for Mer tyrosine kinase: functional study and therapeutic approach evaluation.

Mer tyrosine kinase (MERTK) is a protein present in the human eye involved in phagocytosis, a crucial process which occurs daily and supports health and functionality of photoreceptor cells. Mutations in the gene encoding MERTK lead to a progressive vision loss which begins in the early childhood.

Several important questions still exist, concerning what is the exact role of MERTK in ensuring retina health and sustained vision. More knowledge about this process may in the future help to develop new therapeutic approaches. No therapy is currently available to stop the development or cure the disease.

The first goal of this proposal is to study still unclear biological aspects of phagocytosis by imaging the process in live animals using advanced two-photon microscopy. Here, the infrared light, which does not cause damage to the eye and penetrates it better than the visible light, is used to visualize how the process starts and progresses in the live eye.

The second goal is to develop an approach to correct one of the mutations of MERTK gene that leads to blindness in humans. This approach will be based on novel gene editing techniques which allow to locally correct mutations present in the DNA. By completing this study, Dr. Tworak would like to prove that by this approach it is possible to stop development of the disease and stop the vision loss. The obtained data could be used as a starting point to design a clinical trial to test the therapy in humans.