Towards a molecular diagnosis for inherited optic neuropathies

  • Grant holder: Dr Gavin Arno, Research Fellow and Dr Neringa Jurkute, Postdoctoral Researcher
  • Institution: UCL, Institute of Ophthalmology
  • Grant award: £18,000
  • Start date: September 2020
  • End date: August 2021

Why is this research needed?

Inherited optic neuropathies (ION) are an important cause of blindness in children and young adults. They affect 1 in 10,000 people in the UK.

This group of disorders can be caused by mutations (spelling mistakes) in a number    of genes that lead to the irreversible loss of specialised retinal ganglion cells that constitute the optic nerve. The optic nerve transmits images from the eye to the brain and these genetic changes damage the optic nerve causing visual loss, especially in the central part of the field of vision.

A number of genes have been identified that cause inherited optic neuropathies and rather   remarkably, all of them affected mitochondria, which are the tiny batteries within cells that produce the energy needed for them to survive.

Despite these research advances, the mutations causing disease have yet to been identified in a significant proportion of individuals who have been given a diagnosis of inherited optic neuropathy. Without a molecular diagnosis for IONs, there remain significant obstacles to progress.

What is molecular diagnostics?

Molecular diagnostics deploys a variety of techniques to analyse biomarkers in a person's genes allowing to precisely diagnose a disease in a patient and to monitor its progression. 

This type of test is also used to detect whether a person's genetic makeup may make them more likely to develop certain diseases, and also to personalise therapies that might work best for individual patients.

What is the aim of the project?

There is a compelling need to improve molecular diagnosis in IONs. Current genetic testing strategies fail to identify the cause of disease in a significant  proportion of patients and families which makes assessing the risk of passing on the condition to the next generation extremely challenging. It is also not possible to contemplate treatment approaches, such as gene therapy, if we do not  know which gene is at fault and how it causes damage to the optic nerve.

The central aim of this project is to identify the genes that are responsible for disease in individuals with visual loss with a diagnosis of inherited optic neuropathy in whom known genes have already been excluded.

How will this research help to beat sight loss faster?

By helping to achieve a molecular diagnosis, this research will take a step forward for patients affected by IONs. By diagnosing these conditions with more precision, patients will have access to a more focused choice of potentially more effective treatments.

Further information

Leber's Hereditary Optic Neuropathy (LHON) is one of the most common conditions. You can find more about its causes and symptoms here.

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