“A place to share knowledge on inherited eye disease and train the next generation of clinicians and scientists.”
UK-EGG Webinar 3 – Agenda
Rapid fire poster session
5:35pm: 3 minute posters followed by an open panel questions to speakers
- An illustrative case of bilateral ectopia lentis due to mutations of the ADAMTSL4 gene– Aditi Das, Great Ormond Street Hospital, London
- High myopia referrals to the Genetic Eye Clinic: Are we being short-sighted?- Melody Redman, Yorkshire Regional Genetics Service, Leeds.
- Exome Sequencing of mendelian genes in syndromic and non syndromic patients with Microphthalmia Anophthalmia Coloboma identifies potentially causal mutations in 45%- Irina Balikova, University Hospital Gasthisberg, Belgium
- EPHA2 segregates with bilateral microphthalmia and congenital cataracts in two unrelated families- Philippa Harding, UCL Institute of Ophthalmology, London
- A systematic review of genetic mutations and clinical features associated with Late-Onset Retinal Degeneration- Randa Li, University of Edinburgh, Edinburgh.
- Ocular features associated with DYRK1A variants- Cécile Méjécase, UCL Institute of Ophthalmology, London
- Translational readthrough of ciliopathy genes BBS2 and ALMS1 using patient fibroblasts- Jonathon Eintracht, UCL Institute of Ophthalmology, London
- Genome-wide study of retinal vascular complexity identifies 8 novel loci and unravels shared genetic with cardiovascular events– Ana Villaplana-Velasco, University of Edinburgh, Edinburgh.
- Metabolomic analysis of choroideremia patients plasma reveals systemic lipid metabolism dysfunction and oxidative stress– Dulce Lima Cunha, UCL Institute of Ophthalmology, London
6:10pm: A Qualitative study exploring the support requirements of families with inherited retinal dystrophies and how they obtain information- Manara Gul, University of Cardiff, Cardiff
6:22pm: Retrospective natural history study of a UK cohort of cerebrotendinous xanthomatosis– Suzannah Bell- Moorfields Eye Hospital, London
6:34pm: Characterisation of foveal development and cone photoreceptor specialisation in SLC38A8 mutations- Helen Kuht, The University of Leicester, Leicester
6:46pm: The role of BMP3 in the development of myopia- Amy Findlay, University of Edinburgh, Edinburgh.
UK-EGG Webinar 3 – Speakers
A Qualitative study exploring the support requirements of families with inherited retinal dystrophies and how they obtain information.
Supervisor: Roberta Rizzo
University of Cardiff
Retrospective natural history study of a UK cohort of cerebrotendinous xanthomatosis
Clinical research fellow/ ST1 Ophthalmology trainee
Mariya Moosajee Group
Moorfields Eye Hospital NHS Foundation Trust, London, UK
Characterisation of foveal development and cone photoreceptor specialisation in SLC38A8 mutations
Supervisor: Mervyn Thomas
The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester
The role of BMP3 in the development of myopia
Post-doctoral Research Scientist
Veronique Vitart Group
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh
Helen graduated from the University of Sheffield in 2016 with first-class honours in Orthoptics and was subsequently appointed as a research orthoptist at the University of Leicester. Helen is currently undertaking a part-time PhD, providing insights into foveal developmental disorders using deep phenotyping techniques. She have a special interest in genotype-phenotype relationships associated with developmental disorders of the eye, and the application of artificial intelligence in paediatric ophthalmology.
Amy completed her PhD in the lab of Martin Collinson, University of Aberdeen, studying the role of planar cell polarity genes in the maintenance of corneal transparency. She then moved to MRC Human Genetics Unit, University of Edinburgh, to work in the labs of Ian Jackson and then Veronique Vitart. Here she has developed her interest and skills in using disease models to better understand the mechanisms of sight loss. She hopes to continue this work in future and believes that by investigating the molecular basis of eye disease we can better develop therapeutics in the future.
Register NOW for UK-EGG Webinar 3
Registration is now open for the UK-EGG Webinar 3: UK Eye Genetics – Early Career Researchers
UK Genetic Specialist Clinics
We have added a list of Genetic Specialist Clinics around the country to our Links Page
Late Onset Retinal Degeneration (L-ORD)
L-ORD Information Request
Ophthalmologists and researchers in Edinburgh led by Professor Bal Dhillon have an interest in Late Onset Retinal Degeneration (L-ORD), a rare autosomal dominant disease caused by mutations in C1QTNF5. We would like to build a better picture of the prevalence of L-ORD across the UK and to identify clinical colleagues who are involved in the diagnosis, management and care of L-ORD patients. We would be grateful if you would please contact Prof. Bal Dhillon or Chloe Stanton with details of the number of patients and the location in which you have worked with them.
More details about our work on L-ORD at the University of Edinburgh can be found via link from button below:
UK-EGG Webinar 3 – Call for Abstract Submissions
UK-EGG Webinar 3: UK Eye Genetics – Early Career Researchers
UK-EGG is pleased to announce that our 3rd webinar will be focussed on highlighting the work of early career members from all areas of UK Eye Genetics. If you are a student, post-doc or trainee researcher, clinician, clinical scientist or genetic counsellor and have an interesting story that you would like to present, please submit an abstract for a virtual poster or short talk.
This is an excellent opportunity for you to discuss your work with others in the field in a friendly and informal environment and could lead to initiating or furthering collaborations in the UK-EGG community.
Please return your completed abstract submission form to Chloe Stanton (firstname.lastname@example.org) or Neeru Vallabh (email@example.com) by 22nd March 2021. Presenters must be members of UK-EGG and must register to attend the webinar upon notification of abstract acceptance. This event (and subsequent webinars) will be free to join for UK-EGG members and registration details will be released soon.
Please feel free to share this information widely amongst your colleagues and encourage them to join our UK-EGG community in order to present their work or to support our trainees by attending. Membership attracts a one-off joining fee of £25.00, with no further payment for continued membership. In addition to free registration for our online events, members of UK-EGG are kept updated with genetic ophthalmology research currently on-going in the UK, can take part in secure genetic case discussion, and can attend our yearly Conference for a reduced fee. https://ukegg.com/membership-store/
Future Webinars – Save the Date!
Webinar 4: Gene Therapy in UK Eye Genetics 5.30 – 7 PM Tuesday 6th July 2021
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
Countdown to Webinar 3
UPCOMING WEBINAR – Tuesday, February 23rd
Refsum Disease from an Ophthalmology Perspective
Dr Bart Leroy will present the Ophthalmology side of Refsum Disease and the benefits of early diagnosis by clinicians
Adult Refsum Disease is a genetic disorder impacting the metabolism of phytanic acid. The key symptoms are Retinitis Pigmentosa, loss of smell, hearing loss, numbness, balance issues, itchy skin, shortened fingers and toes. It is one of the few causes of Retinitis Pigmentosa that has a proven dietary therapy to slow vision and hearing loss. Therefore, early diagnosis is critical.
Dr. Bart Leroy is Head of the Department of Ophthalmology, and Staff Member at the Center for Medical Genetics at the Ghent University Hospital and Ghent University, where he has been working since 01/09/2001. He is Full Professor of Ophthalmology and Ophthalmic Genetics at Ghent University. Since August 2013, Bart also has a part-time position (20%) as an attending physician at the Division of Ophthalmology & Center for Cellular & Molecular Therapeutics at Children’s Hospital of Philadelphia, Philadelphia, PA, USA. Bart is an ophthalmologist and clinical geneticist specialized in inherited eye disorders and systemic conditions affecting the eye. In collaboration with Profs J Bennett, AM Maguire and T Aleman at the University of Pennsylvania and Children’s Hospital of Philadelphia, Philadelphia, PA, USA, and the team in Ghent, Bart is involved in phenotyping and genotyping studies and gene therapy projects for inherited retinal blindness. In view of this latter work, he received a Senior Clinical Investigator grant of the Research Foundation – Flanders (Belgium) from 2010 to 2015 & 2015-2020. He is the (co-)recipient of 27 scientiﬁc grants and prizes. He is a member and Board member of several professional organizations, including the International Society for Genetic Eye Disease & Retinoblastoma and the Société de la Génétique Ophtalmologique Francophone and the Belgian Ophthalmological Society.
New Team Members
Welcome Neeru and Chloe…
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
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.
NEW ‘Case Studies’ added to Education Section
Check out the UK-EGG Case Studies section here.
Summer 2020 UK-EGG Newsletter
Check out the Summer 2020 UK-EGG Newsletter here.
Save the Date – Annual Meeting on Monday, 21st June, 2021
2021 Annual Meeting – Venue and Date for your Diary
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
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
16 years of support for ophthalmic clinicians and clinical geneticists