UK-EGG
“A place to share knowledge on inherited eye disease and train the next generation of clinicians and scientists.”
Breaking News
Members can now watch UK-EGG Webinar 2
Members can now watch UK-EGG Webinar 2:
Research Update on Visual Impairment in Ciliopathies
If you are a member of UK-EGG you will have received by the start of next week a members only password for the Zoom Recording of the UK-EGG Webinar 2. Just click on the image above to be taken to our new UK-EGG Webinars page which will over the next months grow in content as we produce more and more webinars.
The webinar is FREE to all members of UK-EGG.
Please Note: to become a member of UK-EGG there is a lifetime membership fee for £25
https://ukegg.com/membership-store/
HOT NEWS: Gene Vision website launched to support those
diagnosed with genetic eye diseases
Gene Vision launched to support those
diagnosed with genetic eye diseases
London, December 01
A new website, Gene Vision, has launched today, developed by Professor Mariya Moosajee and Dr Alex Yeong, supported by Dr Peter Thomas (Director of Digital Innovation at Moorfields Eye Hospital). The new site is intended for adults, children and their families who are diagnosed with rare genetic eye diseases.
The site includes in-depth condition-specific information for patients and their families as well as current research and clinical trials. It will also act as a resource for clinicians and allied healthcare professionals who are diagnosing patients, as well as those in earlier career stages learning about the conditions themselves. In addition, it is anticipated that the site will be used by GPs and other referring specialists so that they can learn more about their patient’s condition quickly and easily, whilst understanding how to provide the best care plan.
Genetic disorders are rare, but together they affect 1 in 25 children in the UK, and contribute to more than 60% of blindness among infants worldwide. Inherited retinal diseases are the commonest cause of blindness among working-age adults generating a huge burden for those with the disease and their families.
“It can be devastating for those receiving rare genetic diagnoses, and frequently patients are not provided with the accurate information they need. Unfortunately, there is also a lack of professional knowledge so patients are not always signposted to relevant resources for information and support, or offered the appropriate investigations, nor information on the latest research and trials, which could really benefit them in the short and long term,” says Professor Moosajee.
“Families deserve to know whether the condition could reoccur in future pregnancies or be passed on to the next generation, or if there are clinical trials they could access. Receiving a genetic diagnosis can cause a great deal of anxiety and worry, hence we needed to develop a trustworthy open-access knowledge resource that complements other credible and accurate information already out there, like the Retina UK website.”
Gene Vision provides in-depth information on conditions and specific genes in a searchable format. There is opportunity to find out about the latest research, external support including specific charities. In addition, an overview of the eye anatomy is provided to give context for those without prior insight.
Gene Vision has been jointly supported and funded by The National Institute for Health Research (NIHR) Biomedical Research Centre (BRC) at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology and Retina UK, a charity which works for people with inherited sight loss. Key medical charities including Microphthalmia, Anophthalmia, Coloboma Support, Aniridia Network, International WAGR Syndrome Association, Nystagmus Network and others have also inputted on content.
The website has been tested by patients with differing levels of sight loss, who use a range of digital accessibility software and magnification devices, together with parents of affected children and health care professionals. It has also had formal design input by digital accessibility consultants who suffer from genetic eye disease themselves. This website is also mobile friendly and so can be accessed anywhere.
Dear Members.
Today we have launched Gene Vision, a fully accessible website for patients and healthcare professionals providing in depth information on genetic eye disease.
Please take a look at the website: https://gene.vision
Do use this resource to signpost patients or colleagues/juniors who want to access more information on a condition/gene/latest research.
Feel free to send us any comments using the contact us box, we are still adding conditions and genes, so we can ensure your request is addressed.
Many thanks
Mariya
Professor Mariya Moosajee
Mr Peter Thomas
Dr Alex Yeong
(Gene Vision Team)
Elizabeth Blackwell Annual Public Lecture 2020
November 30th, 2020 – 1.30pm to 2.30pm
Professor Dame Sue Hill
Save the date for this year’s Elizabeth Blackwell Public Lecture with Professor Dame Sue Hill. Please note the time is TBC.
Dame Sue Hill has been invited to the University of Bristol by the Elizabeth Blackwell Institute on 30 November 2020 to speak “virtually” on the topic of Personalised Medicine.
Professor Dame Sue Hill OBE PhD DSC CBiol FRSB Hon FRCP Hon FRCPath is the Chief Scientific Officer for NHS England – providing expert clinical scientific advice across the health system and head of profession for the healthcare science workforce in the NHS and associated bodies – embracing more than 50 separate scientific specialisms.
Sue is the Senior Responsible Officer for Genomics in NHS England, leading developments in this area, having previously established the NHS Genomic Medicine Centres and led the NHS contribution to the 100,000 Genomes Project. She is a respiratory scientist by background with an international academic and clinical research reputation.
To book your place for this free online event please register via Zoom.
Contact information: Any queries or to register your interest please contact ebi-events@bristol.ac.uk
Countdown to UK-EGG Webinar 1
UK-EGG Webinar 1: Impact of COVID-19 on UK Eye Genetics
The countdown has started on our first webinar which is focused on the Impact of COVID-19 on UK Eye Genetics and will be held on Tuesday 6th October from 5.30 pm to 7.00 pm.
We have 4 fantastic speakers lined up to provide insight into the challenges and opportunities that the COVID-19 pandemic has presented to clinicians, clinical scientists and patients, and there will be plenty of time for discussion and questions.
The webinar is FREE to all members of UK-EGG.
Please Note: to become a member of UK-EGG there is a lifetime membership fee for £25
https://ukegg.com/membership-store/
Speakers for the UK-EGG Webinar 1
Professor Mariya Moosajee
Keep calm and carry on… with telegenetics!
Mariya Moosajee is a Consultant Ophthalmologist in Genetic Eye Disease at Moorfields Eye Hospital and Great Ormond Street Hospital for Children, Professor of Molecular Ophthalmology at UCL Institute of Ophthalmology, and Group Leader of Ocular Genomics and Therapeutics at the Francis Crick Institute in London.
Professor Susan Downes
Responses in speciality of Ophthalmology during first month of Covid lockdown March 2020
Susan Downes, MSc, MD, FRCOphth is a Consultant Ophthalmologist at the Oxford Eye Hospital, Oxford University Hospitals University Trust, and Professor of Ophthalmology at the University of Oxford. She specialises in retinal disorders clinically, as Lead for Age Related Macular disease, and the Retinal Genetics service at the Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust.
Dr. Penny Clouston
Labs in the time of COVID-19: current and future impact on genetic testing
Penny Clouston is a Consultant Clinical Scientist (Molecular Genetics) and a Fellow of the Royal College of Pathologists. She is the Rare Disease Lead and Deputy Head of the Oxford Regional Genetics Laboratories, which is part of the West Midlands, Oxford and Wessex Genomics Laboratory Hub (WMOWGLH). She is Lead Scientist for the Inherited Eye and Neurology (Hereditary Ataxias and Adult–onset Neurodegeneration) Specialist services and is involved in developing and implementing the tests for new NHSE Genomic Medicine Service.
Molly Watt
Usher syndrome patient perspective
Molly Watt (26) is a young, independent entrepreneur who works as an accessibility consultant to designers, web developers and UX experts on the subject of inclusion. Molly speaks from experience: she has Usher Syndrome, was born severely deaf and from the age of 12 had to deal with a progressive sight loss. She was registered blind at 14 years old. She is widely known for her work and for the charity she set up – the Molly Watt Trust – to raise awareness of Usher Syndrome, to mentor others and to give those with the same condition both a voice and a platform to share experiences. Molly has been actively involved in building a community around the world of accessibility, drawing her motivation and knowledge from her experiences and the stories of others impacted by exclusion. Molly has worked with large organisations in the UK and around the world opening minds to the importance of accessibility to and for all. Proud to have been an influencer behind the scenes, Molly thrives on finding ways that lead to inclusion.
Impact of COVID-19 on UK Eye Genetics
UK-EGG Webinar 1: Impact of COVID-19 on UK Eye Genetics
All UK-EGG (UK Eye Genetics group) members are warmly invited to join the first in a series of webinars for the UK Eye Genetics community, aimed at enabling virtual contact between members at a time of great disruption as a result of COVID-19. Our first webinar is focused on the Impact of COVID-19 on UK Eye Genetics and will be held on Tuesday 6th October from 5.30-7 pm.
We have 4 fantastic speakers lined up to provide insight into the challenges and opportunities that the COVID-19 pandemic has presented to clinicians, clinical scientists and patients, and there will be plenty of time for discussion and questions.
Speakers
Prof. Mariya Moosajee: Keep calm and carry on… with telegenetics!
Prof. Susan Downes: Responses in speciality of Ophthalmology during first month of Covid lockdown March 2020
Dr. Penny Clouston: Labs in the time of COVID-19: current and future impact on genetic testing
Molly Watt: Usher syndrome patient perspective
Please Note: to become a member of UK-EGG there is a lifetime membership fee for £25
https://ukegg.com/membership-store/
Join the conversation @UKEyeGenetics #UKEGG
Disclaimer – details provided for registration are for use by the UK EGG committee only.
“This event (and subsequent webinars) will be free to join for UK-EGG members.
New Team Members
Welcome Neeru and Chloe…
Dear Colleagues,
The UK-EGG Executive Committee are pleased to welcome Neeru Vallabh and Chloe Stanton to the Committee as co-directors of seminars for UK-EGG.
Neeru and Chloe will work together to organise online seminars for the UK-EGG community over the next year.
More information to follow.
Updated Genomic Testing Prioritisation
Updated Genomic Testing Prioritisation
Effective Saturday 1st August 2020
Dear Colleagues,
Following the response to the COVID-19 pandemic, NHS England has issued new guidance to genomic laboratories on the prioritisation of work.
From 1st August 2020, all urgent and routine genomic services are returning to business as usual.
Laboratories will continue to process any locally stored samples (non-urgent samples received during the pandemic) and will accept samples from all Genomic Laboratory Hubs for testing.
We would like to thank you for your patience and support during this time.
Save the Date – Annual Meeting on Monday, 21st June, 2021
2021 Annual Meeting – Venue and Date for your Diary
Dear Colleagues,
Our annual conference was due to be held on Tuesday, 24th November, 2020, but due to concerns about ongoing social distancing and restrictions on large group meetings, we have taken the difficult decision to postpone our face to face meeting to Monday, 21st June, 2021. This will be held in the main auditorium of The Francis Crick Institute, London, with access to their gallery space, so there will be plenty of room to spread out and/or invite more guests.
To mark the November meeting we will be hosting a webinar and more details will follow!
UK-EGG Executive Committee: Mariya Moosajee, Denize Atan and Gabrielle Wheway
Twitter and ListServ coming to UK-EGG
We are pleased to announce two new initiatives to the UK Eye Genetics Group.
Firstly, we would like to continue discussion between clinicians, geneticists and scientists in the UK-EGG membership around cases, new research or health service provision updates in the COVID era. We have set up a new UK-EGG ListServ: UKEyeGeneticsGroup@jisc.ac.uk. Details about how to sign up and listserv etiquette to follow shortly in our newsletter.
Secondly, to facilitate wider dissemination of research and clinical updates in eye genetics, we have set up a UK-EGG Twitter account. Please follow @UKEyeGenetics
UK-EGG Executive Committee: Denize Atan, Mariya Moosajee and Gabrielle Wheway
UK-EGG Membership now available ONLINE
UK-EGG Membership
Becoming a member of UK-EGG ensures you will be kept updated with genetic ophthalmology research currently on-going in the UK.
Membership attracts a one-off joining fee of £25.00, with no further payment for continued membership. Being a member of UK-EGG also means you can attend our yearly Conference for a reduced fee.
Membership can now be purchased online via this LINK
UK-EGG
16 years of support for ophthalmic clinicians and clinical geneticists