The award allowed for this important research to continue while Professor Kennedy sought further, more substantial funding for the research.
In addition, early-stage researchers in the lab group worked on this award allowing them to increase their skills and experience in the zebrafish models.
Project: ‘Towards identification of personalised treatments for inherited retinal degenerations by creating patient-specific research models’
Start date: 2021
Award Amount: €50,000
Brendan Kennedy is a Professor School of Biomolecular and Biomedical Science at the University College of Dublin (UCD).
Information on two completed Fighting Blindness-funded projects in this area, led by Professor Kennedy can be found here and here.
1. What are the overall aims of the project you are working on, including how it could have an impact on those affected by sight loss?
2. Please describe the results from the project and next steps
3. More about Breandan Kennedy’s work and bio
This bridge funding of €50K enables us to sustain our research on zebrafish models of IRD. For many IRD genes, it is unclear why gene changes cause impaired vision, which gene variants are pathogenic or benign and which treatment interventions are most appropriate for each patient. In this project, we characterised zebrafish models in which one of 3 IRD genes was rendered completely inactive. This helped us understand effects on vision and on retinal histology. We also generated transgenic lines of zebrafish expressing the human IRD with and without patient variants of known or unknown pathogenic significance.
The effects on vision, of loss-of-function changes in zebrafish equivalents of human IRD genes (e.g. RAB28 and RLBP1) has been determined. This helps us better understand the clinical presentations. Better understanding of the mechanisms leading to impaired vision has been garnered, leading to therapeutic targets that can be pursued. We have successfully create zebrafish lines, humanised to express human IRD genes.
These models are being characterised to assess vision, retinal histology and retinal biochemistry to enable diagnosis of patients IRD gene variants that are pathogenic. All of these models can be incorporated into screen to test the efficacy of candidate therapeutics. We hope to expand this platform to other IRD genes.