Stemming the cascade, understanding genetics factors behind retinal diseases

Retinal diseases are severe and debilitating with potentially devastating effects on a person’s vision and quality of life.  At Roche we’re following the science to develop new medicines for a range of eye diseases, and our ophthalmology research projects focus on age related macular degeneration (AMD), diabetic macular oedema, diabetic retinopathy, geographic atrophy (GA) and glaucoma. Jason Ehrlich, Menno van Lookeren Campagne and Brian Yaspan from the Ophthalmology Research and Development teams provide their individual insights into the significance of understanding genetic factors behind retinal diseases, and how this can drive research in the identification of new therapeutic targets.

What is exciting about the research landscape today in retinal disease?

[Jason] Many companies and academic centres are increasingly pursuing the development of impactful therapies in retinal disease, including conditions with limited or no treatment options.

Over the next decade, insights from human genetics and advances in the technology of drug development will hopefully result in bringing innovative therapies to people with vision-threatening diseases – for example, exciting research is ongoing looking at different therapeutic options for neovascular AMD, diabetic eye disease, and glaucoma; as well as development of technologies that aim to sustain treatment effect for longer periods of time.

Why is it important to understand the genetics of a disease?

[Brian] Identifying genetic drivers is crucial for a complete understanding of the underlying disease architecture. Not only can genetic analyses identify factors of disease risk, they can also shed light on disease severity and progression. Currently there are more than 30 genetic loci associated with AMD identified from genome-wide association studies. This information, coupled with data collected from family members of people with AMD, help scientists better characterise the biological pathways involved in AMD development. For example, genetic factors linked to lipid metabolism, cell death (apoptosis) and growth of new blood vessels (angiogenesis) have been identified.

What motivates you personally and professionally in your role?

[Jason] I trained both as an ophthalmologist and cell biologist. What excites me most is the opportunity to have a broad and meaningful impact on patients' lives. At Genentech and Roche, I am fortunate to have colleagues who are all true experts in their fields - from human genetics to trial operations, manufacturing, or biostatistics - and by gathering those experts together in partnership we all have a unique chance to work on therapies that can make a tremendous difference. Not only is the scientific environment here exciting to be a part of, but the impact we can have on people’s lives is truly profound. It's this shared sense of purpose around helping people living with vision-threatening disease that motivates me every day.

Tags: Ophthalmology, AMD