Retinal detachment is a serious common condition that can lead to blindness, if left untreated. It occurs more frequently in people with myopia (short-sightedness). 

Recently, Dr Veronique Vitart and her team at the University of Edinburgh were the first to discover that some myopia-associated mutations within and close to a gene called BMP3 increase the risk of retinal detachment. BMP proteins are growth factors and the team suggest that the changes seen at BMP3 affect a signal that controls eye size.

In this research project, the aim is to better understand the role of BMP3 in the eye hoping that it could lead to new avenues to develop treatments for retinal detachment. Laboratory research will seek to to establish which of the genetic mutations in BMP are seen to have significant impact and what their effects are. 

Genetic changes near two other BMP genes - BMP2 and BMP4 - have also been recently associated with short-sightedness and have been described as candidate retinal detachment risk regions. BMP2 and BMP4 have roles in the developing retina and are known to interact with BMP3 in bone (where BMP3 blocks their function), but this has not been found to be the case in eyes. 

An important part of developing new drug treatments is understanding the biological pathways, in other words the series of actions among molecules in a cell that leads to a certain product or a change in the cell. Identifying what genes, proteins and other molecules are involved in a biological pathway can provide clues about what goes wrong when a disease strikes.

Drugs already exist which can modulate the BMP pathway, which is promising for the development of therapies. However, this pathway is involved in many different processes and other diseases, so a better understanding of its role specifically in the eye is needed.

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