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

Recently, Dr Veronique Vitart at the University of Edinburgh and her team were the first to discover that some myopia-associated mutations (changes) 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, which would open new avenues to develop treatments for retinal detachment. Cell lines grown in their laboratory will be used to establish which of the genetic changes they have found are important and what their effects are. Using a process called gene editing they can introduce the same changes found in patients to the genetic material of the cells. The effects this has on how the cells function will be measured. Cells from the retinal pigmented epithelium (RPE) which is important for the working of the retina – the light sensitive part of the eye – and in retinal detachment the RPE is torn from the rest of the retina.

Genetic changes near two other BMPs, BMP2 and 4, have also been recently associated with short-sightedness and were candidate retinal detachment risk regions in their genetic study. BMP2 and 4 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 examined in eyes. 

An important part of developing medicines is understanding the pathways – the series of chemical reactions - that happen in cells. Drugs already exist which can modulate the BMP pathway, which is promising for the development of therapies. However, this pathway is involved in a lot of different processes and other diseases, so a better understanding of its role specifically in the eye is needed.

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