What is Rare Disease Day?
The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on peoples' lives. There are between 5,000 and 8,000 rare diseases, and together in the UK they affect the lives of 3 million people. Half of all rare diseases affect children.
Inherited diseases affecting the retina are a leading cause of blindness among children ; are the leading cause of registered blindness in working-age adults in England and Wales  and the third leading cause of registered blindess overall . In 2013/2014 over 1,600 new Certifications of Visual Impairment (CVIs) in Engalnd and Wales were due to inherited retinal diseases .
Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. The healthcare research sector is now striving to provide more insight into, and eventually treatments for, rare diseases for which there are often no effective cures.
More information about Rare Disease Day can be found by clicking here.
To find out how the NIHR Moorfields BRC raised awareness of Rare Disease Day in 2015, please click here.
The Role of Research
The UK is already a recognised leader in research into rare diseases; the strategy aims to keep the UK at the forefront of advances that benefit patients through basic and translational research.
Research and technology advances are progressing rapidly, both for single gene (genetics) and whole DNA (genomics). The ‘genomics revolution’ will radically transform the way people with rare diseases are diagnosed and treated in the coming years.
To support this, £100 million has been made available to make whole genome sequencing available to NHS patients (the 100,000 Genomes Project); rare diseases being one of the initial priority areas. Rare eye conditions are being investigated as part of this national project and Moorfields Eye Hospital are contributing to this programme of research. Patients attending our inherited eye disease clinics are being offered the opportunity to participate if they appear to be eligible according to the criteria. We also support national studies, including those for rare diseases, hosted through the National Institute for Health Research (NIHR) BioResource.
Additionally, the NIHR Rare Diseases Translational Research Collaboration is funding research into large-scale sequencing which may lead to the discovery of previously unknown genetic mutations relating to rare diseases. It may also reveal genes which do not cause these conditions but affect their severity and response to treatment. Eye Diseases is one of 14 specialist themes for the calloboration. The Eye Diseases theme is hosted by the NIHR Moorfields BRC under the leadership of Prof Graeme Black (Manchester) and Prof Andrew Webster (Moorfields Eye Hospital and UCL Institute of Ophthalmology). Currently, the projects within this national programme are exploring detailed phenotyping for:
- Stargardt’s Disease
- Optic neuropathies (particularly Leber’s Hereditary Optic Neuropathy and Autosomal Dominant Optic Neuropathy)
- Cone Dysfunction Syndromes (particularly Achromatopsia and Blue Cone Monochromacy).
Rare Eye Diseases
There any many types of rare eye conditions which affect patients who visit Moorfields Eye Hospital NHS Foundation Trust. This year, along with Moorfiels Eye Hospital, we have decided to highlight five rare eye diseases for which there is currently research being conducted for across the sites of the NIHR Moorfields BRC, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology.
Please click on the links below to find out more information about these rare conditions, which includes their known causes and current treatments.
LCA is a rare inherited condition caused by defects in one of a number of different genes which causes severe tunnel vision.
Stargardt Disease is a rare inherited condition causing loss of central vision.
Birdshot is a rare autoimmune disease for which early symptoms include floaters and/or blurred vision.
Achromatopsia is a rare inherited condition that causes sensitivity to bright light and loss of colour vision.
Blepharospasm is a rare condition that causes involuntary blinking and muscles spasms (dystonia) around the eyes.
Make Your Message Count!
In the week before Rare Disease Day 2016, we collected:
* Messages of support for people with rare diseases
* Comments about research for rare diseases
* Thoughts about what raising awareness of living with rare diseases means to you
This was a national initiative leading up to World Rare Disease Day on Monday 29th February 2016 - the rarest day of the year.
The messages were collated and will be delivered to Parliament alongside other messages collected across the UK!