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Researchers discover five new glaucoma-associated genes

An international group of researchers has found five new genes strongly associated with primary angle-closure glaucoma (PACG), the most prevalent form of glaucoma in Asia, Asian Scientist reports. The same group reported their discovery of three associated genes in 2012.

All eight genes provide unexpected insights into the disease process of glaucoma and how the shape of the eye could contribute to the disease even in currently healthy, asymptomatic people.

The researchers' work could pave the way for the discovery of potential new drug targets, and also build up genetic predictors that could help to screen and direct treatment for individuals at risk of becoming blind from glaucoma.

Although preventable, glaucoma is the most common cause of irreversible blindness worldwide. PACG in particular is responsible for a high proportion of blindness in Asia, with up to 80 per cent of the estimated 15 million people afflicted with PACG living in Asia.

The study, jointly led by Dr Chiea Chuen Khor from the Genome Institute of Singapore (GIS) and Professor Tin Aung from the Singapore Eye Research Institute, involved more than 10,000 patients from 24 countries.

The researchers studied a large population size because, according to Dr Khor, "research on complex genetic diseases such as PACG needs to be undertaken in large enough numbers so that as many people as possible are represented".

Having treated glaucoma patients for more than 20 years, Prof Aung observed that PACG is fairly common in elderly Singaporean Chinese, and that the disease appears to run in families - raising the possibility that there could also be a heritable basis for PACG.

GIS executive director Professor Huck Hui Ng said, "As Singapore faces the challenge of a rapidly-ageing population, the need to research the genetics of age-related diseases, like glaucoma, also increases. Considering how prevalent PACG is in Asian populations, this discovery is significant as researchers continue to work towards precision medicine.

"It allows for better clinical decision-making which ultimately leads to improved healthcare outcomes for the public. This collaboration also reaffirms the importance of cross-institutional efforts; bringing our capabilities together results in high-impact research," Prof Ng added.

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