Introduction to Eye Genetics
Sight is one of our five major senses for us to perceive our surroundings. Disruptions to sight result in a drastically lower quality of life. A critical point to appreciate is that much of the blindness caused by eye diseases are potentially preventable by earlier detection and earlier intervention.
Common causes of irreversible blindness in Singapore and throughout the world are age-related macular degeneration, glaucoma, as well as various corneal disorders. For some conditions such as glaucoma, current widely held hypotheses suggest that blindness could result from a final common pathway. Thus, the search for biological insights providing better understanding of disease mechanisms remain a priority.
Genes are instructions that tell the body how to make all the proteins it needs to survive and grow. By identifying each of these proteins, scientists hope to better understand how our body works, and what is happening when it does not work properly. It is hoped that this knowledge will eventually lead to more effective medicines and treatments.
An ideal medicine should target only the part of your body that is ill. Unfortunately, many medicines have side effects, and some of them are serious. If scientists can identify the proteins involved in an illness, they may then be able to design new medicines that work only on these proteins, causing fewer, less serious side effects.
Our approach to studying eye diseases is to use genetic techniques as a starting tool to discover molecular mechanisms underlying eye diseases. Promising ‘hits’ emerging from genetic studies will be assessed using bioinformatics and biological experiments for application both as a precision medicine tool in the clinic and/or suitability as a therapeutic target for disease interception. We also foresee tremendous benefit in linking eye genetic data, clinical information, and imaging modalities using Artificial Intelligence learning methods to construct personalized risk models for disease prediction.
The different domains of eye diseases.
Eye Genetics Program
The GIS eye genetics program has a 10-year partnership with an excellent specialist team led by Professor Aung Tin, Executive Director of the Singapore Eye Research Institute. This partnership has enabled a large number of well-characterized samples to be available locally. In addition, we have strong partnerships with collaborators from Africa, Asia, Australia, Europe, North America, and South America. Specifically, our research priorities are as follows:
- Primary angle-closure glaucoma.
- Exfoliation syndrome and glaucoma.
- Primary open-angle glaucoma.
- Age-related macular degeneration.
- Corneal dystrophies.
We apply a selection on unbiased genomic techniques such as genome-wide association studies, whole exome, and whole genome sequencing to study these diseases.