Dr Gabrielle Wheway, a scientist from the Centre for Research in Biosciences at the University of the West of England (UWE Bristol), has been awarded The John Marshall Award for RP Scientist of the Year 2016 at the annual conference of the charity RP Fighting Blindness.
Dr Wheway is a cell biologist who specialises in analysis of genes and proteins to help understand a condition known as Retinitis Pigmentosa (RP), the most common cause of inherited blindness. RP is a hereditary condition that can affect up to one in 2,000 people. The charity works with patients, funds research and raises awareness of this condition.
The prize is selected by a panel of scientists, who give the award for the research paper published in past 12 months that is deemed to have had the most significant impact on the disease.
The paper ‘An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes’ was published in the journal Nature Cell Biology. It was co-authored by Dr Wheway, while she was based at the Institute of Molecular Medicine at the University of Leeds. It was funded by the EU in a project that involved research groups in the UK, Netherlands, Germany, Italy, Ireland, France and the US.
Dr Wheway explains:
“Our paper focused on understanding the primary cilium, the part of the cell which acts as an antenna and is very important in development.
“We individually knocked out every gene in the genome one by one to find all genes functioning in making cilia. Unexpectedly, we found that some of the most important genes for making cilia were ones which are mutated in people with RP. We are now studying these proteins more closely to give a better understanding of their function in the cilium, and how this relates to eye disease, so we can try to find cures or develop therapies.
“The prize award event was quite special to me because we were able to meet patients and show them that their condition is one that scientists are currently investigating and deem important. For me the ultimate accolade is if a paper is referenced or cited by other scientists as they take a project to a new stage. But the prize was poignant as I was able to relate my work very directly to a group of patients which brought into sharp focus its relevance in a very human way.”
Professor John Marshall MBE, one of RP Fighting Blindness’ longest serving trustees, said:
“Gabrielle Wheway and her colleagues are to be congratulated for their recent receipt of the John Marshall award for the best paper for work conducted in the United Kingdom in the field of inherited retinal diseases.
“This award is given annually and generates fierce competition. Her work reflects the pre-eminence of the University of the West of England in elucidating a far better understanding of a particular causal mechanism of a group of eye diseases which may well have implications for other areas of the body.”