Real-world evidence driving personalised ophthalmic care

Research area: Glaucoma
Aims and objectives

Despite glaucoma being the second leading cause of blindness globally, the causes of the commonest form remain unclear. Glaucoma patients develop blindness despite current treatments and we are unable to predict which treatments work in individual patients and which patients are at the highest risk of blindness.

Work being carried out

Work carried out as part of this career development award research programme will address three of the top research questions for glaucoma (“what are the most effective treatments for glaucoma?”, “what causes glaucoma?”, and “how can glaucoma patients with a higher risk to progress rapidly be detected?”) as identified by a national consultation of patients, carers, relatives and eye health professionals.  By analysing millions of genetic markers in over 100,000 people in the UK Biobank study, we can discover which genes control intraocular pressure, a critical risk factor for glaucoma.  Also, by analysing these genetic markers in current trials of glaucoma patients, we can discover the genes that determine whether patients respond well to specific treatments and how quickly their vision will deteriorate.  This will enable us to treat patients more effectively and reduce side effects and the risk of blindness. The study of intraocular pressure genetics will be by far the largest globally and powered to identify important rare variants, informing new biological targets for drug therapy.  

Outcomes and impact

Understanding the genetics of treatment response and progression can drive precision medicine for glaucoma; this benefits patient quality of life by reducing side-effects and risk of blindness, and benefits healthcare providers by reducing monitoring burden and directing resources to the patients that most need it.

The proposed research will identify new potential ways to treat glaucoma and help us achieve the goal of precision (personalised) medicine for glaucoma. 


Research details

Full Title

Biological pathway discovery for glaucoma through analysis of genetic and real-world data

Grant holder

Dr Anthony Khawaja

Research Area(s)

Glaucoma (Genetics / inherited eye disease)

Start date

February, 2017

Award level


Funding scheme

Career Development Award

Date: 13 August 2018

Grant reference: R170005A