Supporting Rare Diseases

Building a brighter future - Our Biomedical Research Centre has a wealth of experience of working with patients to identify the challenges they face, their concerns and their needs, and in facilitating relationships with multiple stakeholders to influence sight loss and vision research. With a commitment to ensuring this experience helps to give a voice to those who are under-represented, the BRC offers these patients its expertise and resources.

When combined with patients’ commitment and determination, we have seen some impressive results. If you would like further information on some of our initiatives, please get in touch.

This is the poster for rare disease day. It reads 'Supporting Rare Disease Day - join us in making the voice of rare disease heard. Then there is the RareDiseaseDay Logo - which is a group of colourful hands with a person in the centre of it.

Small Numbers, Large Impact: Empowering Rare Disease Patients

Sight loss and visual impairment can negatively impact people’s quality of life in many ways, including their personal, professional and social lives. It can influence their ability to carry out activities of daily living, to do their job and to pursue interests. Addressing this burden through the identification of treatments or preventative measures is particularly challenging due to the vast number of sight loss conditions. A proportion of these eye conditions are rare diseases that individually affect fewer than five per 10,000 of the population, but collectively have a highly significant impact. However, the relatively small number of patients diagnosed with each individual rare disease often results in their needs being poorly met and being poorly represented within national and international initiatives to raise awareness of sight loss.

It is said that out of adversity comes opportunity, and many patients affected by a rare disease have been driven to improve circumstances for themselves and others with their condition.

References (for this page and the five links above):

1. James Lind Alliance Priority Setting Partnerships. About the JLA. Available at: www.jla.nihr.ac.uk (Accessed January 2017)

2. National Eye Institute. Rare Diseases. Available at: www.nei.nih.gov/health/rare (Accessed January 2017)

3. Rare Disease UK. What is a rare disease? www.raredisease.org.uk/what-is-a-rare-disease/ (Accessed January 2017)

4. Department of Health. 2013. The UK Strategy for Rare Diseases. Department of Health. Available at: www.gov.uk/government/publications/rare-diseases-strategy (Accessed January 2017)

5. Koutroumanos N, Folkard A, Mattocks R, Wright J et al. Bringing together patient and specialists: the first Birdshot Day. Br J Ophthalmol 2013; 97:648-652. Available at: www.bjo.bmj.com/content/early/2013/03/06/bjophthalmol-2012-302134.full (Accessed January 2017)

6. Uveitis Information Group Scotland. About Punctate Inner Choroidopathy. Available at: www.uveitis.net/patient/pic.php (Accessed January 2017)

7. Yu-Wai-Man P, Chinnery PF. Leber Hereditary Optic Neuropathy. GeneReviews® [Internet]. 2000, Update 2016. Available at:www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lhon (Accessed January 2017)

This is the logo for Genomics England. The text says Genomics england - it is next to an abstract outline of the shape of England.

This project is sequencing 100,000 DNA codes of patients, leading to better, earlier diagnosis and personalised care, for cancer, rare diseases and infectious diseases.

For more information on this ground-breaking project, please click here to visit the Genomics England website.

If you have any enquiries regarding this project, please contact Samantha Lawrence by email.

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