UWE researchers win Wellcome Trust and National Eye Research Centre funding to study hereditary blindness

Issue date: 23 November 2016

Inherited mutations in genes encoding proteins which are important for the function of the retina are a common cause of hereditary blindness. Scientists at the University of the West of England (UWE Bristol) are looking to discover how mutations in some of these genes lead to a particular form of blindness called retinitis pigmentosa (RP). It is hoped that better understanding of the function of genes and proteins mutated in RP will eventually lead to developing therapies and even cures for this disease, and other associated diseases.

Dr Gabrielle Wheway, of the Centre for Research into Biosciences (CRIB) at UWE Bristol, has recently been awarded a Wellcome Trust Seed Award in Science and a small grant from the National Eye Research Centre to fund investigation into how mutations in a group of genes called splicing factors cause RP, the most common cause of inherited blindness.

Dr Wheway said, “This funding is crucial to our work in this area and will enable us to build on previous findings and to develop larger scale studies in the future.

“RP is a hereditary condition that can affect up to one in 2,000 people. In affected individuals the photoreceptor cells in the eye degenerate, so that sight is lost. Photoreceptor cells are the cells of the retina which absorb light and transmit this signal via the optic nerve to the brain, allowing us to see. These photoreceptor cells have a structure which is a highly specialised primary cilium, which acts like a signalling antenna for cells. It is this primary cilium which I have studied most closely in my research career, and which I will study now to try to understand this form of RP.”

A recent collaborative paper led by Dr Wheway while she was working at the University of Leeds identified a novel link between primary cilia and splicing factor proteins. This original finding will be studied in more detail in the Wellcome Trust-funded project at UWE Bristol.

The new project will build on the earlier paper and a small team of scientists will make an in-depth observation and analysis of splicing factor proteins in retinal cells cultured in the lab. This work will use new technology to introduce mutations into the genome using a technique called CRISPR/Cas9 gene editing.

Dr Wheway said, “CRISPSR/Cas9 is an exciting recent research innovation that has potentially huge applications for studying and treating genetic disease.

“We will use this technique to mutate splicing factor genes in retinal cell lines grown in labs to discover what is happening to the cells when these genes are mutated. This will include investigating interactions between proteins, and studying the structure of cells, particularly focussing on the cilium, so that we can gain new understandings of RP at the a molecular and cellular level.

“Better understanding of the function of splicing factors in the cilium and how this relates to eye disease will help us to find cures or develop therapies. I am incredibly grateful to the Wellcome Trust and the National Eye Research Centre, and everyone who supports these charities, for funding this important research.”

Earlier this year Dr Wheway was awarded a prize as Scientist of the year for a blindness charity.

Professsor Olena Doran, Director of the Centre for Research into Biosciences, said, “This important work and the Wellcome Trust funding is central to CRIB's aspirations to enhance the impact of our research and to translate fundamental research into practical application. This funding strongly supports the Centre's biomedical strategic direction and contributes to further development of our links with external partners including the NHS.”

Dr Wheway is one of the 'new blood lectureship' appointments. The new blood lectureships were established by the University following its success in the Research Excellence Framework 2014, allowing talented academics to successfully combine their research and teaching activities. Dr Wheway's outstanding achievement within the first few months of her appointment is an excellent illustration of the success of the new blood scheme.

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