Fellowship supports research into birth defects

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A major fellowship award to a Roslin scientist will support research into congenital conditions including a form of blindness, cleft palate, and heart defects.

The seven-year Future Leaders Fellowship from UK Research and Innovation will support Dr Joe Rainger in his research, working with DNA, live cell imaging and developing eye tissues, to reveal the biological mechanisms underpinning disruptions to tissue fusion in embryonic development.

In particular, Dr Rainger will examine the causes of ocular coloboma, the leading inherited cause of blindness.

The condition arises from a tissue fusion defect that occurs in the developing eye in the first seven weeks of pregnancy.

This defect, optic fissure closure (OFC), leaves a gap in the retina and optic nerve which cannot be corrected.

Healthy development

Work carried out under the fellowship aims to research key genes, cell behaviours and molecular systems involved in healthy tissue fusion.

It will include further work building on the recent discovery by the team of a gene, known as Netrin-1, which is needed for OFC in many species, and for development of other fusing tissue such as ear and palate.

Studies may help to identify the genetic causes of problems such as cleft palate, spina bifida, or heart defects.

In most cases, people with these conditions do not have the cause of their disorder identified, which can impact counselling and efforts towards prevention.

The team will use advanced techniques such as genome editing, gene network analysis and cell behaviour modelling to build a robust, accurate reference framework for OFC and tissue fusion in other developmental contexts.

Dr Rainger is among 78 new Fellows named this year’s round of in the Future Leaders Fellowships scheme, and one of four at the University of Edinburgh.

Some 550 scientists in total will benefit from the initiative, which has an investment of £900 million to recruit new Fellows over three years to help take researchers’ ideas from lab to market or other societal benefit.

This Fellowship award will enable the use of a powerful combination of tools to provide valuable information on developmental fusion defects. These studies should help uncover new genes and molecular pathways linked to these conditions and provide evidence to support counselling in affected families. I will also examine how the maternal environment can influence the causes of these defects, and help define ways to curb their incidence. Our data could reveal how gene function guides cell behaviour, providing insight to a range of biological contexts in health and disease.

Dr Joe Rainger,

These inspirational Future Leaders Fellows will generate the ideas of the future, helping to shape science and research for the 21st century. But to realise the full potential of these discoveries, their ideas need to be taken out of the lab and turned into real products and services, where they can actually change people’s lives for the better.

Chris Skidmore

** The Roslin Institute receives strategic investment funding from the Biotechnology and Biological Sciences Research Council and it is part of the University of Edinburgh’s Royal (Dick) School of Veterinary Studies. **

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