World Glaucoma Week

Interview with Anthony Khawaja

What made you interested in the eye and then in glaucoma?

The eye is quite an amazing organ. Uniquely, you can see inside it! If someone has a problem with their eye, you can look inside, directly visualise the lens, the blood vessels, the nerve and make a diagnosis using only your clinical skills. That seemed special as a medical student. Also, the intricate surgery and use of cutting edge technologies were draws. I decided I was interested in glaucoma quite early on in my career. The main draw was the fact it was such a common cause of blindness yet so much mystery remains regarding what causes it. The possibility to make a big difference by discovering something important is exciting!

What are the main research questions you are trying to answer?

I am trying to discover what causes glaucoma. What are the genetic factors that predispose people to the disease, and what environmental factors may also act as triggers. I then want to use these identified "biomarkers" to help predict who will develop blindness from glaucoma so we can target screening and personalise treatment.

Why is your research important?

Discovering the causes for glaucoma can make an impact in two ways. Firstly, predictive factors can help us treat patients more effectively by avoiding both over and under-treatment. Secondly, understanding the biology underlying the processes that cause glaucoma can open the door to new treatment strategies to reduce blindness.

Can you share a turning point or defining moment in your work?

Last year was very exciting when we published a large study on glaucoma genetics in the high profile journal Nature Genetics. Our study has been described as 'landmark' as we discovered over 100 genetic markers for glaucoma and, for the first time, showed that these markers can predict who in populations will develop glaucoma in the future.

What are the challenges for glaucoma research?

Glaucoma is considered an extremely 'complex' disease, which means there are hundreds of factors that each contribute small risk but collectively can cause disease. Discovering each of these factors is hard and only contributes an extra small piece of the puzzle. While we discovered over 100 factors last year, there are likely still hundreds more we need to identify before we can say we truly understand the disease.

How do you see the future of glaucoma research?

My passion is to translate these genetic discoveries into tools we can use in the clinic to personalise treatment of glaucoma to each individual. If successful, we could use genetic markers to help guide which treatments will work best in each patient, or whether they even need treatment at all. This holy grail of "precision management" is looking more and more likely with the advances in genetic analyses we are seeing.

Your research uses Biobank/medical records in its work – how important is this information? What can you gain from using this?

For a disease as complex as glaucoma, we need a very large number of patients' data to be able to discover each small risk factor. The UK Biobank study was a game-changer. Our Nature Genetics publication used data from 140,000 people, enabling the discovery of over 100 genetic markers.

How has your work with patients had an impact on your research? Have you been involved in any PPIE activities?

It is working in my glaucoma clinic that drives my research aims. Our current try-and-see approach with glaucoma treatment needs to change and we should be able to develop tests that can guide which treatment is likely to do best from the outset.