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Breakthroughs and Achievements

Research Breakthroughs & Developments

NUS and SERI conducts broad-based research that will improve the understanding of how eye diseases develop, test new diagnostic and treatment modalities, and facilitate these technologies for commercialization. NUS is particularly focused on sight-threatening disorders that are relevant to our society. The Department has already established a high international profile for its work and is widely recognized for its research at the cutting edge of vision sciences.

Current and significant research breakthroughs and developments:

Discovery of the three susceptibility genes that are associated with Primary Angle Closure Glaucoma (PACG)

Singapore scientists at the Singapore Eye Research Institute (SERI)/ Singapore National Eye Centre, Genome Institute of Singapore (GIS) and the National University of Singapore have found three susceptibility genes that are associated with PACG, a major cause of blindness worldwide. PACG is a predominantly Asia form of glaucoma that is a leading cause of blindness in Chinese people. The team led an international consortium that performed a genome-wide association study (GWAS) of 1,854 PACG cases and 9,608 controls of over five sample collections in Asia. The researchers performed validation experiments in another 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections from around the world. A total of 1,293 Singaporeans with PACG and 8,025 Singaporean controls were enrolled in this study. This work stands as the first to study PACG genetics using a genome-wide perspective. These finding confirms the longstanding suspicion of Professor Aung Tin that the disease is strongly hereditary.

 
Identification of genes for central corneal thickness that is associated with potentially blinding eye conditions such as keratoconus

Scientists at Singapore Eye Research Institute and A*STAR's Genome Institute of Singapore have succeeded in identifying genes for central corneal thickness that may cause potentially blinding eye conditions. These eye conditions include glaucoma, as well as the progressive thinning of the cornea, which may eventually lead to a need for corneal transplantation. The authors jointly led a multi-centre study involving 55 hospitals and research centres around the world. Their findings were published in the prestigious science journal, Nature Genetics (6 January, 2013). The Singapore team (Prof Aung Tin, Assoc Prof Eranga Vithana, Assistant Professor Khor Chiea Chuen, Dr Cheng Ching-Yu, Dr Liu Jianjun, Assoc Prof Tai E Shyong Prof Saw Seang Mei, Prof Wong Tien Yin) has had remarkable success identifying the most CCT-associated loci to date prior to this collaborative world-wide effort, by identifying 6 distinct genetic loci in two papers published in 2011 and 2012 via sample collections involving Singaporean Chinese, Indians, and Malays, as well as Beijing Chinese. However, none was found to be associated with common eye diseases like this study has now shown. Overall this new study identified a total of 27 associated loci, including 6 for the keratoconus. These observations suggest that most of the CCT-associated loci identified from populations of European descent are shared with Asian populations. These findings show that Singapore is well placed globally in eye and genetics research in finding causes for sight threatening conditions. Eye doctors can in the future through genetic analysis better manage such patients, preventing regression of their conditions.

 
 
Study On Link Between Race And Eye Diseases (English) | (Chinese)
 
 
Gene discovery for Congenital Hereditary Endothelial Dystrophy

In July 2006, Prof Donald Tan initiated a genetics project on Congenital Hereditary Endothelial Dystrophy (CHED) with Assoc Prof Aung Tin, as a result of genetic material obtained from a CHED family who had corneal transplantation performed by the staff in Myanmar. This led to the identification of a new gene (SLC4A11) for CHED, and culminated in a publication in Nature Genetics, and 2 Singhealth research awards for A/Prof Aung Tin and Dr Eranga Vithana. This new borate transporter gene, not previously linked to human disease, has opened up new avenues of genetic research into other more common forms of endothelial dystrophy, including the common condition of Fuchs’ dystrophy, which shares many of the phenotypical characteristics of CHED.

 

Click here to view the full list of the breakthroughs and achievements.