2017 Research grant awards

Research grants awarded during 2017

UK and Eire Glaucoma Society

‘Identifying the genetic basis for heritable Normal Tension Glaucoma, with a focus on mitochondrial function’

Professor David Garway-Heath, UCL Institute of Ophthalmology: £40,000

Glaucoma is a neurodegenerative disease of the optic nerve and is the leading cause of irreversible blindness worldwide.  While raised eye pressure is the main risk factor for glaucoma, patients with glaucoma deteriorate at all levels of eye pressure and despite eye pressure lowering, suggesting that other factors confer susceptibility.  A common type of glaucoma, where such factors are likely to play an important role, is normal tension glaucoma (NTG).  This is characterised by damage to the nerve of sight – optic nerve head cupping and loss of peripheral vision – in the presence of normal eye pressure.  The optic nerve head cupping is linked to loss of key cells for vision called retinal ganglion cells (RGCs).  RGCs are highly energy dependent and therefore rely heavily on the cells’ powerhouses, called mitochondria, for their survival.  Mitochondrial function is, to a large extent, genetically determined and to this date it is unclear what role systemic (peripheral blood) mitochondrial function plays in the development of NTG and how systemic mitochondrial function correlates with genetic (DNA) defects in NTG patients.

The one-year project forms the initial phase of a wider project, the overarching aim of which is to explore the genetic basis for heritable NTG, with a focus on systemic mitochondrial function.  The specific aims of this initial phase are to:

  • Establish the research protocols and initiate recruitment of suitable patients for study (recruit and characterise a group of 90 subjects and collect a DNA sample to be stored for future genetic analyses)
  • Refine experimental techniques
  • Provide pilot data on mitochondrial function (measured with the Seahorse Analyser) from these 90 subjects

Once the group is established, funding will be sought to expand the study to obtain a group of sufficient size and to conduct detailed genetic analyses.  Data collected will help towards the final goal of the project which is to investigate the contribution of heritable mitochondrial dysfunction in the development of NTG.

Determining the role of mitochondrial function and genetics in glaucoma development may uncover novel treatment targets for protecting the optic nerve and preventing or delaying vision loss in glaucoma, and identify clinically useful markers to identify which patients will benefit most from which treatment.  Enhancing mitochondrial function in carefully selected glaucoma patients, a strategy already utilised with partial success in the field of neurology, would revolutionise the management of this challenging condition and reduce its socioeconomic burden.