Back in March this year I attended the Keratoconus Group AGM at Moorefield's.
The Chairman's report at the AGM mentioned mine and Barbican's support and stated 'Our grateful thanks must go to Amy Musto and her employer, Barbican Insurance for their generosity and support.'
It was great seeing everyone, catching up and meeting new people with KC.
David Cable, Chairman opening the meeting with a brief introduction and update; David thanked myself and Barbican on several occasions throughout the meeting for our support. The charity group now has £29,000 in assets, £7,500 of which has been used for the grant with Fight for Sight in research. The conference takes place every 2 years and the next one is due in 2020. Attendance is up and down however, a DVD is produced for a wider audience and it's an opportunity for a variety of consultants to come together and present. There are now other groups in Brighton, Scotland and Bristol so the support network is slowly spreading across the country.
One of the members has published his own book based on living with Keratoconus - Ashley Winter decided to write a book to show others what can be achieved if we put our minds to it. If you would like to purchase a copy it's being sold on amazon: https://www.amazon.co.uk/KERATOCONUS-ME-personal-struggle-Keratoconus/dp/1791672558/ref=sr_1_1?ie=UTF8&qid=1553507147&sr=8-1&keywords=keratoconus+and+me
The main take away from attending this AGM was hearing about the update on the genetic research study which started 2 years ago. Alison Hardcastle, Professor of Molecular Genetics Deputy Director was the guest speaker and presented with a very detailed and interesting presentation.
Some updates from Alison's presentation:
KC is more common than you think and affects 1 in 1620 people. From this study and looking at patients at Moorfield’s Stephen Tuft, Professor calculated that roughly 55,000 of people in the UK have KC.
The Genome Wide Association Studies has proven very challenging as there is on average 5 million different genes in our human genome.
They have been collecting DNA data for the past 15 years and used over 3,000 KC patients DNA (including myself) for this study. The data that has been collected and reviewed will be published in a couple of weeks; Alison should hopefully be able to bring this with her to the CSR week.
- Getting the information on what genes could be involved
- Data; there appears to be some variants in some genes that could be linked, starting to get a slow picture of which genes are linked to a good cornea and which are linked to KC, now need to know why
- They think they have found 30/40 genes involved in the risk of KC, 20 of them being new; the genes do not work on their own, they work together through pathways
- What is the mechanism of the cause; more investigation is required
- Association with other conditions
- Develop/Improve new therapies
- Environmental effects are being looked into such as eye rubbing
- A greater understanding is required in genetic variation in skin conditions to see if there could be a link
- There is still a clinical problem as to if KC is suspected or definite, this is an area that is being looked into as part of the research
- Lack of marketing at high street optician level, this is also going to be looked into; KC still gets overlooked at times by the optician however, they are trying to set up new courses at Moorfield’s to improve opticians awareness
- Lack of donor tissue; 20% of KC patients require a transplant of their cornea and there is still a shortage however, the UK law for organ donations is changing in Spring 2020 and it will become an ‘opt out’ or ‘deemed consent’ system. https://www.organdonation.nhs.uk/about-donation/how-the-law-is-changing/ - this could improve the shortage.