Active Brain & Nervous System NIHR-supported project Cells, Biochemistry & Physiology

Imaging and genetic insights into the human visual system (IMGEN)

In plain English

AI plain-English summary

High-resolution retinal imaging now lets researchers watch the living human eye in unprecedented detail, tracking how its key structures develop, age, and break down in disease. This matters because vision loss affects millions, yet the earliest biological changes that precede sight problems remain poorly understood. Most current tests detect damage only after it is advanced. By combining detailed retinal scans with genetic analysis in both healthy volunteers and people with reduced vision—including those with inherited retinal conditions and premature birth—the researchers aim to map the entire chain from molecular fault to behavioural change. They will also assess how non-genetic factors such as early birth alter visual system structure and function. If successful, this work will identify early biomarkers that flag disease before symptoms appear, and provide a framework for evaluating emerging therapies. That could accelerate clinical trials for genetic eye conditions and help clinicians predict which patients will benefit from new treatments. For premature babies, it may eventually guide monitoring and intervention strategies. The project is primarily fundamental science—understanding how vision works from molecules to behaviour—but such mechanistic insight is what underpins every future therapy for blinding diseases.

View original technical description
Advances in imaging technologies have enabled detailed assessment of the processes that drive conscious vision in humans. For example through the use of high resolution retinal imaging it is now possible to establish a more comprehensive understanding of how the key structures at the back of the eye develop and are disrupted during ageing and disease. With the overarching aim of the studying the visual system and its pathology from molecules to behaviour, we will perform a set of investigations (including detailed retinal imaging and genetic analyses)in healthy volunteers and in people with reduced vision (including individuals with genetic retinal conditions). The impact of both genetic and non-genetic factors (e.g. premature birth) on visual system structure and function will be evaluated. This work will provide: 1) provide insights into how the visual system develops; 2) highlight key disease biomarkers; and 3) provide a framework for understanding the potential of emerging therapies.

Researchers

Panagiotis Sergouniotis (Principal Investigator)

Related Research

Grants with similar aims, by meaning.

Investigating mechanisms involved in retinal signalling in health and disease through detailed in vivo human electrophysiological investigation
Plasticity of visual information processing and the consequences of neurodevelopmental disorders
The genetics underlying imaging phenotypes and correlated physiological measures
Endotying neurodegeneration through the eye using multimodal retinal imaging
High Resolution Retinal Imaging.

Original classification

Next Generation Phenotyping and Diagnostics

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