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Inherited childhood sight loss: understanding visual cycle biology to develop treatments

Inherited childhood sight loss: understanding visual cycle biology to develop treatments content

Prof Breandán Kennedy and Ms Rebecca Ward, University College Dublin

 

Ms Rebecca Ward, UCD

Commencing in 2018, this 3-year project  is co-funded by Fighting Blindness and the Irish Research Council (IRC) under the IRC Enterprise Partnership Scheme. We spoke with Rebecca, a PhD student on this project to learn a little more about it.

Can you tell us a little more about your research project?

My research will examine zebrafish models of inherited sight loss conditions such as Stargardt disease and Leber congential amaurosis (LCA). Zebrafish are an ideal research tool because their eyes and genes are evolutionarily conserved with humans. They can also be easily genetically modified to mimic human disease. By using these models of inherited disease, we will study the function of genes that play a role in the visual cycle and ultimately sight loss conditions.

In parallel, we will also test neuroprotectant drugs to target pathways that may slow the death of photoreceptor cells, thus preserving vision for longer. As part of my PhD, I will play a central role in developing a network of young vision researchers within Ireland and raise the profile of public and patient involvement in research (PPI).

What attracted you to retinal research?

Retinal research provides hope and eventually the reality of effectively delaying or even preventing vision loss. My desire to pursue a PhD in retinal research was fueled by my enthusiasm to contribute to a clinically relevant problem. Although inherited retinal degenerations are rare, these conditions have a major impact on people’s lives.

The prospect that my research could contribute to restoring arguably the most important sense is incredibly exciting.

Within the next five years, where do you expect great advances to be made in vision research?

Within the next five years, I am optimistic that gene therapy will be successfully applied to fix other genes that cause inherited sight loss. By then, I am also confident we will better understand how retinal cells die. Armed with this information, we will be able to develop targeted drug therapies. In parallel to these efforts, it is necessary to promote awareness of inherited vision loss conditions in the next five years. This will not only aid in raising vital funds for retinal research but will provide those living with vision loss better-quality services and access to sight-saving therapies when they become available.

Recent publications

Pharmacological restoration of visual function in a zebrafish model of von-Hippel Lindau disease. Ward et al, Dev Biol. 2019 Feb 27

The Association for Research in Vision and Ophthalmology (ARVO) International Research Advocacy Toolkit – Ireland