In partnership with the National Institute for Health Research, we’re funding Dr Patrick Yu Wai Man’s Advanced Fellowship to evaluate patient outcomes and therapies for inherited diseases that damage the optic nerve.

This is the first Moorfields Eye Charity Advanced Fellowship in partnership with the National Institute for Health Research (NIHR) and we’re delighted to award it to Dr Yu Wai Man. Our established partnership with the NIHR reinforces our commitment to the training and development of current and future leaders in eye health.

National Institute for Health Research

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NIHR funding, enables and delivers world-leading health and social care research that improves people’s health and wellbeing and promotes economic growth.

NIHR Advanced Fellowships aim to provide the opportunity to undertake exciting and impactful research that will underpin the researcher’s development as an independent future leader.

The challenge

Inherited optic neuropathies are genetic diseases that damage the optic nerve – the specialised cable that sends visual information from the eye to the brain. They can result in severe loss of vision and blindness in children and young adults. Although a large number of genetic defects (mutations) can cause inherited optic neuropathies, the damage caused to the optic nerve is invariably due to impaired function of mitochondria, which are the powerhouses producing all the energy that a cell needs to survive. 

The two most common inherited optic neuropathies are Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA).

The management of patients with inherited optic neuropathies remains challenging as there are limited treatment options to slow or prevent ongoing loss of vision.

1 in 10,000

People (at least) are affected by inherited optic neuropathies in the UK

This situation is further complicated by major gaps in our understanding of how the disease progresses over time and how best to measure the significant visual impairment that patients face in their day-to-day lives. 

Dr Yu Wai Man and colleagues have successfully used a gene therapy product to replace the defective gene that causes LHON in patients carrying a specific mutation. Results so far show that those who were treated within 1 year of being affected experienced significant improvement in their vision. These results were published in Science translational medicine.

Fortunately therefore, important progress is being made but there are still many questions to address.

The person

Dr Patrick Yu Wai Man is an academic ophthalmologist at the University of Cambridge, affiliated with the Cambridge Centre for Brain Repair and the MRC Mitochondrial Biology Unit. He also has joint clinical appointments at Moorfields Eye Hospital in London and Addenbrooke’s Hospital in Cambridge as an honorary consultant neuro-ophthalmologist with a subspecialist interest in mitochondrial eye disorders. 

I am delighted to have been awarded an NIHR-Moorfields Eye Charity Advanced Fellowship. There are limited treatment options for these blinding mitochondrial disorders, but we are making important inroads. This award will launch an ambitious research programme to expand our translational work for patients with visual loss from inherited optic neuropathies.

Dr Patrick Yu Wai Man

He is building an international profile in neuro-ophthalmology and is establishing himself as a leading clinical academic working on inherited optic neuropathies in the UK. Part of this includes building a national referral network for the investigation and management of patients with inherited optic neuropathies.

With his Advanced Fellowship, Patrick will tackle some of the unanswered questions in LHON and DOA.

Advanced Fellowship - research focus

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Research plan is to carry out:

  1. A prospective natural history study of LHON that will recruit affected individuals who have lost vision for up to 10 years. The participants will be assessed every 6 months to measure their vision and determine how well their optic nerves are working by making use of the latest technology.
  2. A gene therapy trial for patients with chronic LHON carrying the 11778 mutation who have experienced visual loss for a longer period of time (between 1 and 5 years). This study will tell us if vision can improve when patients are treated later in the course of their disease with gene therapy.
  3. The development of a dedicated Patient-Reported Outcome Measure (PROM) for inherited optic neuropathies. This new tool will capture the lived experiences of affected individuals, which can then be applied to monitor disease progression and evaluate the benefit of potential treatments in future studies.

The potential

Dr Yu Wai Man wants to find answers to the difficult questions that patients and their families ask in clinic, and ultimately, contribute to the development of effective treatments for inherited optic neuropathies, which are invariably progressive, irreversible and a leading cause of blindness in children and young adults. 

The challenging nature of these objectives continues to drive the major aspects of his research work and an NIHR Moorfields Eye Charity Advanced Fellowship will provide him with the time and resources to accelerate his career development and research programme.

The overarching aim of Dr Yu Wai Man’s Advanced Fellowship is to improve the management of patients with LHON and DOA and fast-track the delivery of effective treatments. The data generated will tell us how these diseases progress over time and the factors that predict the visual prognosis – crucial information that can be relayed to patients and their families in clinic. 

Looking into the future, a validated PROM for the inherited optic neuropathies will provide a useful set of outcome measures to assess quality of life and justify the cost-effectiveness of new treatments.

Project Details

Funding scheme

NIHR Moorfields Eye Charity Advanced Fellowship

Grant holder

Dr Patrick Yu Wai Man

Area(s) of work

Neuro-ophthalmology/optic neuropathies

Grant reference

GR001376 | NIHR301696