Using genetic technology to improve understanding of Leber hereditary optic neuropathy (LHON)

Research details

  • Type of funding: PhD Studentship
  • Grant Holder: Dr Monika Winter
  • Institute: Northumbria University
  • Region: North East
  • Start date: October 2024
  • End Date: September 2028
  • Priority: Understanding
  • Eye Category: Inherited retinal
Brief plain language background

Leber hereditary optic neuropathy (LHON) is a rare genetic condition that affects the optic nerve, which sends visual information from the eye to the brain.

Most commonly affecting young adult men, LHON causes a sudden, painless loss of central vision in both eyes. It is caused by faults (mutations) in the genetic code of mitochondria, which are the tiny ‘powerhouses’ of our cells.

What problem/knowledge gap does it help address

There is variation in the effects of LHON – in addition to the sex differences – as some people with the genetic mutation do not ever experience sight loss.

Additional genetic and environmental factors (such as smoking, alcohol and diet) could therefore play a role in triggering LHON, rather than the mitochondrial faults alone.

Aim of the project

To identify the onset of retinal ganglion cell degeneration in LHON patients and how this can be prevented.

This award will also contribute to building capacity in inherited retinal research as it will lead to a PhD for an early career researcher.

Key procedures/objectives

The PhD student will:

  1. Develop a suitable experimental model of LHON using stem cells from affected patients and those that have the mutation but show no symptoms.
  2. Use gene editing techniques to identify genetic risk factors in LHON.
  3. Discover genetic targets that show therapeutic potential for the treatment of LHON.
Potential impact on people with sight loss

The outcomes could provide a baseline understanding to be used in the development of effective treatments for LHON. Additionally, identifying genetic risk factors of disease progression could help earlier diagnosis, offering an opportunity for early intervention.