Rare Disease Day 2017

Rare Disease Day takes place on the last day of February each year and raises awareness among the general public and decision-makers about rare diseases and their impact on patients' lives. Find out more about Rare Disease Day and how the role of research is playing a vital role across sites of the NIHR Moorfields BRC, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology.

Rare eye diseases affect fewer than five per 10,000 people, but the impact is significant. With the support of our donors, Moorfields Eye Charity has been able to provide funding support for a range of projects looking at rare diseases, all with an ultimate goal to achieve better understanding, diagnosis and treatments.  Read about some of the projects we've funded:

Blepharospasm and hemifacial spasm  cause the involuntary closure of the eyelid and spasms across the cheek; it can be painful, lead to functional blindness and a reduced quality of life.  Regular injections of botulinum toxin (botox) to alleviate the spasms are a common treatment option but regular ‘top-up’ of this treatment is required.

Moorfields Eye Charity  is currently supporting a study which aims to assess the services offered at Moorfields Eye Hospital from the patients’ perspective.  Usual care involves routine, scheduled appointments at fixed times for each cycle of treatment. How well the treatment works and how long for differs for each person, leading to unnecessarily frequent treatment for some, and experience of distressing symptoms for prolonged periods for others.

Mr Daniel Ezra, a consultant ophthalmic surgeon at Moorfields Eye Hospital, and his colleagues are carrying out a clinical trial to compare a group of patients receiving the standard fixed-time treatment cycle to a group who will book their own appointments as they feel necessary.  This evaluation of a patient-led model of care is a really exciting opportunity to explore whether empowering patients to book their own appointments allows for a more stable pattern of disease severity and symptoms, while improving satisfaction and acceptability with their care, and quality of life. If the new service is found to be both effective and cost-effective it will be important for the future delivery of treatment services for patients with blepharospasm and hemifacial spasm across the UK. 

Leber Congenital Amaurosis (LCA) is a rare inherited condition caused by defects in one of a number of different genes and leads to loss of vision because the light sensors held in the retina at the back of the eye do not work properly.  Mutations in the genes that cause LCA are inherited and vision is severely impaired from birth.  With support from Moorfields Eye Charity, scientists led by Dr Jacqueline van der Spuy at UCL Institute of Ophthalmology will use patients' own cells taken from a urine sample and reprogrammed to grow a model of their retina in the laboratory.  These ‘3D’ models can provide an invaluable resource to gain better understanding and test new therapies.  For example, a technique called gene editing will be used on the model of the retina to try to correct the mutated part of the gene that causes the disease.

In another line of investigation, Jim Bainbridge, Professor of Retinal Studies at University College London and consultant ophthalmologist at Moorfields Eye Hospital NHS Foundation Trust  and colleagues have been working on whether gene therapy can benefit children with severe sight impairment from retinal disease associated with gene defects in AIPL1 (LCA4).  This research team have found in laboratory experiments that they can protect the retina by providing it with the gene it lacks. They now plan to find out if this approach can benefit affected children by proposing to use a harmless virus, or “vector”, to provide the missing gene. 

Stargardt Disease is a rare inherited condition affecting 1 in 8,000 to 10,000 people. In Stargardt’s the light-sensitive layer of cells in the macular region of the eye degenerate. The macular is the area at the back of the eye which is responsible for the fine detailed vision necessary for activities such as watching TV and reading.

An ongoing study at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, led by Professor Robin Ali, aims to replace damaged cells in the retina with new stem cells has been supported into the next phase of the project.  This team have successfully grown and transplanted new light sensitive cells, replacing damaged one in a laboratory setting and will look at improving this technique to get to a stage where they can start to do a clinical trial on patients. 

Moorfields Eye Charity is also supporting a recent study led by Professor Mike Cheetham at UCL Institute of Ophthalmology which is focusing on the genetics of Stargadt Disease.  An alteration in a gene called ABCA4 causes Stargardt disease and results in the light receptors held in the retina not to develop properly causing vison loss.  Professor Cheetham’s lab has successfully developed a ‘retina in a dish’ model which they can use to show now alterations in the genes of interest disrupt retina function.  This model has the potential to test antisense oligonucleotides – small pieces of DNA that can be designed to bind to specific sequences of genetic material – for their ability to correct the mutation.