The information in this skill is provided for informational and educational purposes only. It is not a substitute for professional medical advice, treatment or diagnosis. Please speak to your doctor for medical advice. If you think you may have a medical emergency, please seek immediate medical attention.
Gene Vision is the brainchild of Professor Mariya Moosajee. As a practising consultant ophthalmologist specialising in genetic eye disease, she has had countless conversations with families struggling to find the information they needed on their condition, including the appropriate care pathways, latest research and accessing social support. Often patients would report never receiving an explanation on what their rare disease was and how it was caused. To address this difficult need, Professor Moosajee decided to create Gene Vision, an on-line fully accessible web resource for both health care professionals and patients, so they could equally benefit from the sharing of knowledge and expertise in genetic eye disease.
She approached her colleague Peter Thomas, consultant paediatric ophthalmologist and Director of Digital Innovation, who also has a computer science background, to help build the website. Together, they secured sponsorship from the National Institute of Health Research (NIHR) and Retina UK to fund the project. Dr Alex Yeong was recruited to collate the content for the website. He has been integral to the information provided for both sets of users, patients and health care professionals, the design and accessibility of Gene.Vision.
A patient focus group was conducted to ensure that both health care professionals and sight-impaired individuals could trial the website and comment on its usability. In addition, two professional digital accessibility consultants, Ms Molly Watt and Mr James Buller (both of whom also suffer from genetic eye disease) reviewed the website. This has led to a peer-reviewed publication which provides a gold standard approach of developing accessible web resources, entitled Gene.Vision: Accessibility Considerations for an Online Resource on Genetic Eye Disorders for Sight Impaired Users.
Charities, including Retina UK, Aniridia Network, Nystagmus Network, International WAGR Syndrome Association, Norrie Disease Foundation and Microphthalmia, Anophthalmia and Coloboma Support have all reviewed the content related to their conditions and have endorsed the website. Special thanks to Dr Caroline Kilduff for her graphic design input and all the contributors (listed in About us) that helped to write and proof-read the entries. Gene Vision has been a joint effort and all of the contributions have ensured that it has the maximum benefit for patients and their families, especially those receiving a new diagnosis and those seeking information.
Our aim is that Gene Vision will provide an open access dynamic source of information on genetic eye diseases, that will continue to grow with updates on the latest research and treatments entering our health care systems.
“Alexa, ask Gene Vision for information about a genetic eye condition”
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