Welcome to the UK-EGG Website
The UK Eye Genetics Group (UK-EGG) was set up in December 2002 for ophthalmic clinicians and clinical geneticists with a specialist interest and expertise in ophthalmic genetics, to keep up to date in the field of clinical ophthalmic genetics which is a rapidly evolving specialty. The aims of the group are to disseminate the following information:
- NHS initiatives in ophthalmic genetics and relevant funding
- Centers offering molecular genetic analysis
- Update of current research in ophthalmic genetics
- Provide a forum for interaction between clinicians and scientists
- Share research in applied fields
- Open discussion group
Retina UK and the Macular Society - PhD Studentship
Retina UK and the Macular Society - PhD Studentship
Dear Sir/Madam,
We would like to invite you to submit an application for PhD studentship on inherited macular dystrophies. You can learn more about the criteria for such projects by reading our Research Strategies.
You may already be familiar with the work of Retina UK and the Macular Society and the pioneering research we fund, but if not you can learn more about our organisations by visiting our websites at www.RetinaUK.org.uk and www.macularsociety.org
The deadline for a grant application is 5th January 2026. Please send your application by this date to melanie.vicarage@RetinaUK.org.uk
Please note that applications must concern inherited macular dystrophies; applications focused on AMD or other non-inherited macular diseases will not be accepted.
Should you require any further information about our grants process or the work we do, please don’t hesitate to get in contact with us.
We look forward to receiving your application.
Yours faithfully,
Retina UK
UK-EGG - Annual Conference 2025 - Abstracts
UK Eye Genetics Group Annual Conference 2025 - Abstracts
Dear all
We are pleased to announce that the Abstract Book from the UK-EGG Annual Conference 2025 has been officially published and is now accessible online.
Readers may view the complete collection of abstracts by selecting the images below or by visiting the following link - https://bmjophth.bmj.com/content/10/Suppl_5
Regards
Ms Neeru A Vallabh
Clinical Senior Lecturer in Eye and Vision Science, Institute of Life Course and Medical Sciences |
Honorary Consultant Ophthalmologist (Glaucoma), St Pauls Eye Unit, Liverpool University Hospitals NHS Foundation Trust
UK-EGG - Oxford 2025 Meeting Report
UK-EGG - Oxford 2025 Meeting Report
Dr Randa TH Li
Monday 16th June 2025
Tsuzuki lecture theatre, St Anne’s College, Oxford
The 2025 UK-EGG annual meeting was held in Oxford on 16th June. 100 delegates came together on a glorious summer day. We were warmly welcomed by Professor Susan Downes (Professor of Ophthalmology, Consultant Ophthalmologist, Oxford), to the beautiful venue of St Anne’s College.
In a lecture room without empty spaces, attendees were spellbound by breath-taking research delivered by distinguished speakers. Dr Kanmin Xue and Professor Sobha Sivaprasad gave us insights into the latest developments in AMD treatment, Professor Robert MacLaren updated us on RPGR gene therapy and gave promise of a 2nd gene therapy soon to be approved, whilst Dr Jasmina Kapetanovic showcased her current research in optogenetics. Professor Omar Mahroo was as excited as ever about electrophysiology and its applications in CSNB. Miss Samantha de Silva kept us on our tip toes by asking us thought provoking questions such as “Can stationary IRDs be progressive?”. Dr Panos Sergouniotis briefed us on the genotype-phenotype correlation in albinism and Professor Dominik Fischer told us of the challenges of gene therapy for achromatopsia.
Professor Susan Downes delivered the keynote speech on Stargardt through the ages (photo 1, Prof Downes accepting a bouquet from Prof Moosajee). How lucky we are to be on the cusp of emerging treatments! The importance of research into genetic eye disease was further emphasised in charity perspectives delivered by representatives from Stargardt’s connected registry, Fight for Sight, Retina UK and Macular Society.
Early career researchers shared their promising genetic eye disease studies in a fascinating array of posters and high-quality presentations. Amidst strong contenders, Dr Nicky Cronbach won the best oral presentation and Dr Sara Romero-Vázquez won the best poster presentation. Prizes were awarded by the Chair of UK-EGG, Professor Mariya Moosajee (photo 2, L-R Prof Downes, Dr Nicky Cronbach, Prof Moosajee, Dr Sara Romero-Vázquez). The UK-EGG Seedcorn Grant was awarded to Danyun Zhao, a PhD student in the lab of Dr Cerys Manning at the University of Manchester, to support “Developing a CRISPR activation approach to prevent Stargardt disease progression”.
UK-EGG would like to thank all delegates, sponsors and speakers for contributing to a successful 2025 meeting and extend our appreciation to our local hosts and organisers Samantha de Silva and Professor Downes (alongside Prof Moosajee and Dr Kapetanovic, photo 3, L-R Prof Moosajee, Prof Downes, Dr Kapetanovic, Miss de Silva).
Photo 1: Prof Downes accepting a bouquet from Prof Moosajee
Photo 2: L-R Prof Downes, Dr Nicky Cronbach, Prof Moosajee, Dr Sara Romero-Vázquez
Photo 3: L-R Prof Moosajee, Prof Downes, Dr Kapetanovic, Miss de Silva
Lang Lecture - not to be missed
Lang Lecture - not to be missed
Dear UK EGG community,
Please see this opportunity to attend the prestigious Lang Lecture delivered by our President, Professor Mariya Moosajee, entitled a "Genetic trip around the globe," hosted by the Ophthalmology Section at the Royal Society of Medicine in London on Thursday 9th October in the evening.
We hope you can join, for further details, please click on the link: https://www.rsm.ac.uk/events/ophthalmology/2025-26/opu01/
About This Event
Genetic eye disease is a leading cause of blindness worldwide, with inherited retinal diseases being the leading cause of sight loss among working-age adults in the UK. There are over 500 genes known to cause genetic eye disease.
This lecture will detail genetic conditions affecting various parts of the eye and discuss the latest research into advancing our knowledge of disease mechanisms and potential new genetic therapies. It will improve our understanding of how genomic medicine and research can impact patients with genetic eye disease.
By attending this lecture, you will:
Gain in-depth clinical insights into rare genetic eye diseases
Advance your knowledge on the state-of-the-art treatments under development for genetic eye diseases; what the limitations are, new technologies, and what’s on the horizon for patients
Explore how research can help inform the clinical care we provide patients with genetic eye disease
UK Eye Genetics Group Executive
Genetics of Ocular Development (GoOD) Meeting -
Ghent, Belgium, Monday 8 September - Tuesday 9 September, 2025
Genetics of Ocular Development (GoOD) Meeting
We look forward to welcoming you to Ghent.
With best wishes, Elfride De Baere on behalf of the scientific committee: Nicola Ragge, Nicolas Chassaing, Patrick Calvas, Anne Slavotinek, Jean-Michel Rozet
Fight For Sight/Stargardt's Connected Small Grant Award
Fight For Sight/Stargardt's Connected
Small Grant Award
Fight for Sight and Stargardt's Connected are pleased to invite calls for early career clinical or research scientists proposing Stargardt’s research projects to collect preliminary or pilot data for developing competitive follow-on funding applications. The grant is for up to 12 months for a value of £15,000. The closing date to apply is 16th July.
Please see https://www.fightforsight.org.uk/apply-for-funding/research-funding/current-funding-opportunities/small-grants/ for further information.
Many thanks,
Bhavna Tailor
Chief Executive Officer - Stargardt's Connected
Grant Call | Innovation Accelerator - Short Grant Call
On Retina UK behalf
Innovation Accelerator - Short Grant Call
Dear Sir/Madam,
Retina UK invites applications for research grants of up to £50,000 maximum to generate preliminary data on a completely novel concept for which there is currently no data available globally. Project duration should be no more than five months, aiming to provide initial proof of concept to allow for larger subsequent applications to funders. Retina UK aims to review applications rapidly and inform applicants of the outcome within one month. Applications for travel grants, open access or equipment will not be accepted.
The deadline for applications is 27th June 2025. To download the application form, please visit www.RetinaUK.org.uk/research/for-researchers Alternatively, email kate.arkell@RetinaUK.org.uk or melanie.vicarage@RetinaUK.org.uk
Please send your application by this date to melanie.vicarage@RetinaUK.org.uk
We look forward to receiving your application.
UK-EGG Annual Conference Oxford 2025
Monday, 16th June, 2025 - In Person
Registration is now open for the annual conference of the
UK Eye Genetics Group on Monday 16th June 2025 in Oxford
This year, the meeting will be chaired by Professor Susan Downes and by Miss Samantha De Silva and hosted at St Anne’s College, in Oxford!
The day will include thought provoking sessions on clinical and molecular eye genetics, genetic case discussions, short talks and posters by early careers researchers, and talks by charities. Confirmed speakers at present include Dr Kanmin Xue, Professor Sobha Sivaprasad, Professor Robert MacLaren, Professor Susan Downes, Dr Jasmina Kapetanovic, Professor Omar Mahroo, Dr Panos Sergouniotis, Professor Dominik Fischer as well as Miss Samantha de Silva.
We look forward to welcoming you to the conference in Oxford!
Early bird registration deadline: 16th May 2025 at 23:59 BST.
Register now to benefit from discounted pricing! UK-EGG members save an additional £25 on the cost of registration – don’t delay, sign up today and save!
UK-EGG Oxford 2025 -
Call for Abstracts
Call for abstracts and clinical genetic cases:
To submit abstracts for a poster and/or a short talk in the Early Career Researcher or clinical genetic cases sessions, please download the form linked below and send your abstract to ukeyegenetics@gmail.com. All abstracts for oral and poster presentations will be subject to peer review before acceptance. Submissions will close on 2nd May 2025 and successful submissions will be notified by 10th May 2025. Prizes will be awarded at the end of the conference for the best oral and poster presentations.
And if you are applying to £5,000 UK Eye Genetic Group Seedcorn award, the submission deadline is 30th March 23:59! Don't miss this opportunity!
We look forward to welcoming you to Oxford this summer!
UK-EGG 2025 Annual Meeting Committee
Tickets
UK-EGG Annual Conference Oxford 2025
– REGISTRATION –
Oxford 2025 Member – In Person
Registration is now open for the annual conference of the UK Eye Genetics Group on Monday 16th June 2025 in Oxford
YOU ARE PURCHASING A MEMBER’S ‘IN PERSON’ PLACE AT UK-EGG 2025 ANNUAL MEETING.
$135.00
Out of stock
Out of stock
Oxford 2025 Non-Member – In Person
Registration is now open for the annual conference of the UK Eye Genetics Group on Monday 16th June 2025 in Oxford
YOU ARE PURCHASING A NON-MEMBER’S ‘IN PERSON’ PLACE AT UK-EGG 2025 ANNUAL MEETING.
$168.00
Out of stock
BriSCEV – invitation to their 25th course and conference
BriSCEV – invitation to their 25th course and conference
We are looking forward to welcoming you to Leicester for this year’s BriSCEV course and conference.
Some key dates for your calendar:
Registration and abstract submission opens -
Abstract closing - 29th June
Abstract Acceptance Notification - 21st July
Early Registration Closing - 27th July
Final Registration Closing - 24th Aug
Course and Conference - 8-9th Sept 2025
UK-EGG Annual Meeting 2025 Oxford –
Call for abstracts and clinical genetic cases - CLOSED
A Timely Reminder – Call for abstracts and clinical genetic case
Grant Call | Application Deadline Extension
On Retina UK behalf
Application Deadline Extension
UK Eye Genetics Group (UK-EGG) Seedcorn Award - Call Now Open
2 Weeks Extension for this Grant Application
UK Eye Genetics Group (UK-EGG) Seedcorn Award - Call Now Open
Job Information | Lecturer or Senior Lecturer in Genomic Medicine
The University of Manchester - Job Information |
Apply for Lecturer or Senior Lecturer in Genomic Medicine
Dear UK-EGG Members,
On the behalf of the University of Manchester
We seek a talented scientist for a Lecturer/Senior Lecturer (equivalent to Assistant/Associate Professor) position in Genomic Medicine. We are especially interested in researchers with a program of work focused on the mechanistic characterisation of genetic disorders with a goal towards therapeutic development. The post-holder will have access to an outstanding academic environment in Manchester and will be expected to develop their own independent research programme.
There will be opportunities to closely collaborate with internationally-leading clinician scientists within the Division whose areas of interest include developmental disorders, neurogenetic/neurometabolic conditions and ophthalmic genetic disorders. There will also be close links with the Manchester Centre for Genomic Medicine, one of the largest Clinical Genetics centres in the world, and with major research initiatives including the NIHR Manchester Biomedical Research Centre and the Manchester Rare Conditions Centre.
UK Eye Genetics Group Annual Conference 2024 Abstracts
Dear UK-EGG Members,
The BMJ Open Ophthalmology has published a supplement featuring abstracts from the UK Eye Genetics Group annual meeting held in Liverpool on 10 June 2024. This collection showcases an array of cutting-edge research, clinical case studies, and innovations in ophthalmic genetics, highlighting contributions from early career researchers and covering both oral and poster presentations. The supplement provides the latest insights in genetic eye research, serving as a useful resource for professionals involved in advancing care and knowledge in this evolving field.
Ms Neeru A Vallabh, Clinical Senior Lecturer in Eye and Vision Science
UK-EGG Annual Conference Liverpool 2024
Conference Report
Report for the annual conference of UK-EGG held on
Monday 10th June 2024 in Liverpool
by Mohammed Aslam, FY 3 Doctor, Calderdale and Huddersfield NHS Foundation Trust, UK.
Founded in 2002, the UK-EGG provides a hub to share knowledge on inherited eye disease and train the next generation of clinicians and scientists. This year’s annual meeting took place at the award-winning Spine building which sits in the heart of Liverpool’s knowledge quarter.
The day was kickstarted with talks on advances in ocular genetics, including an informative update from Consultant Histopathologist Sarah Coupland on the ocular melanoma genetics and their clinical relevance. The highlight of this session involved a presentation delivered by group leader at the UCL Institute of Ophthalmology, Nikolas Pontikos. The socioeconomic burden of late diagnosis for inherited retinal diseases (IRD) is a well-known issue, therefore alongside his team Pontikos is creating Eye2Gene. This AI software can help doctors better diagnose patients with IRD. The team used data from 130 IRD cases and found Eye2Gene provided a rank for the correct gene higher or equal to the human phenotype ontology (HPO)-only score in over 70% of cases.
The next session involved talks from early researchers with regards to their exciting projects. Cecile Mejecase achieved the award for the best oral presentation with her talk on retinal organoid models revealing dysfunctions of vitamin A metabolism in RDH12-retinopathies.
It was a pleasure to be amongst the audience when listening to keynote speaker and Consultant Gynaecologist Meenakshi Choudhary. The presentation gave many exciting insights into mitochondrial DNA disease prevention, highlighting newer technologies such as ‘Pronuclear Transfer’. Engaged listeners were eager to get involved with Q&A time at the end. It’s useful to note that maternally inherited mitochondrial DNA mutations can also cause optic neuropathies.
After lunch we had the privilege of listening to well-known professional actors Laura Norton and her partner Mark Jordon, best known for his TV roles in Heartbeat and Emmerdale. They told the story of how their two young children were diagnosed with Usher syndrome, a rare genetic disease that can cause significant hearing and visual issues. It was both sad and frustrating to hear the lack of support that was available to them, and how this led to such a negative experience. They now spend much of their time raising awareness of the condition and endeavour to raise funds for research to find a cure.
A later talk by Consultant Obstetrician Meekai To highlighted ‘The Generation Study’, which will sequence the genomes of 100,000 newborn babies. Amongst the genetic conditions tested for is RPE65 associated Leber congenital amaurosis and early onset severe retinal dystrophy.
The day was concluded after some engaging ocular genetics related case presentations and finally a talk on developing a short activating RNA therapy for aniridia.
Meeting Highlights:
Best Oral Presentation: Cécile Méjécase: Retinal organoid models reveal dysfunction of vitamin A metabolism and phospholipid transport in dominant and recessive RDH12-retinopathies
Best Poster Presentation: Swati Sharma: Investigating retinal cellular dynamics in eye disorders using Zebrafish embryos
UK-EGG Liverpool 2024 - Photo Gallery
Dear UK-EGG Members,
UK-EGG Liverpool 2024 was, as one can imagine, a wonderful conference, packed with amazing presentations from a great faculty. Below is a photo gallery to give you a taste of this great event. A full report will be posted as soon as possible.
Looking forward to seeing you all again next year.
Ms Neeru A Vallabh, Clinical Senior Lecturer in Eye and Vision Science
Thank you to Denize Atan
Thank you to Denize Atan
Dear Members,
We wanted to say thank to Denize Atan, who has decided to step down from her role as co-president of the UK Eye Genetics Group after 5 years.
She worked closely with myself and the team to introduce quarterly webinars during the pandemic, improve the organisation, and hosted the annual meeting in Bristol in 2022. On behalf of the executive and all the members, we are very grateful for her contribution.
I will be continuing as sole president as we have some important administrative changes to the secure the status of the group in progress. I look forward to welcoming you to Liverpool with our host Dr Neeru Vallabh on the 10th June for our annual meeting.
To register, please follow this link: https://ukegg.com/annual-meeting-liverpool-2024/#register
Kind regards
Mariya
Professor Mariya Moosajee
President of UK Eye Genetics Group
Invitation to Contribute...
Women’s Research in Ophthalmology
Invitation to Contribute... Women’s Research in Ophthalmology
Dear UKEGG Members,
We hope this email finds you well. I am writing to invite you to contribute to a Special Collection entitled "Women’s Research in Ophthalmology" in collaboration with Dr. Bethany Higgins and Dr. Liza Sharmini Ahmad Tajudin.
As part of our commitment to spotlighting the critical role of women in research and scientific endeavors, particularly in underrepresented areas, we are seeking contributions that showcase the latest research, discoveries, and perspectives of women in the field of ophthalmology.
The collection will cover a range of key domains, including genetics and gene therapy, clinical developments, gender disparities, diversity and inclusion, pharmacological agents, regenerative medicine, immunomodulatory therapies, surgical innovations, personalised medicine, neuroprotective strategies, and targeting angiogenesis in retinal diseases.
Each manuscript within this Special Collection proudly features at least one female researcher in a leading role as the corresponding author, emphasising our dedication to supporting and promoting women's voices in science.
If you are interested in contributing to this important initiative, you can find further information here: https://journals.sagepub.com/topic/collections-oed/oed-1_therapeutic_advances_in_ophthalmology?journalCode=oed
Thank you for considering this invitation, and we look forward to your participation in advancing and promoting women in the field of ophthalmology.
Best regards,
Mariya Moosajee
Professor Mariya Moosajee
MBBS BSc PhD FRCOphth
Professor of Molecular Ophthalmology,
Consultant Ophthalmologist and
Genetics Service Lead at Moorfields Eye Hospital, UCL Institute of Ophthalmology and The Francis Crick Institute
We welcome a new Team Member...
UK-EGG Social Media Representative
We would like to introduce Kirk Stephenson who has joined the UK-EGG Team as our Social Media Representative.
Kirk Stephenson is a Clinical Ophthalmologist currently finishing a 2-year medical and surgical Retina Fellowship at the University of British Columbia. Kirk graduated from University College Dubin School of Medicine (MBBChBAO) and has since completed a research MD entitled ‘Inherited Retinal Degenerations: Development of an Irish Strategy for Diagnosis and Management’ at UCD and an MSc in Genomic Medicine through the University of South Wales. Kirk has been involved with developing the Irish Inherited Retinal Degeneration (IRD) programme (Target 5000). He is actively involved with medical student and resident education and has a keen interest in patient and public engagement, particularly in the field of retina/IRD. He is commencing an Ocular Genetics Fellowship at the Hospital for Sick Children, Toronto with Professor Elise Héon in July 2024. This fellowship is supported by a Foundation Fighting Blindness Career Development Grant and he will investigate PRPF31-associated retinal degeneration and a patient-reported outcome measure for children with IRD. Kirk looks forward to contributing to and promoting the mission of the UK-EGG.
Assistance Required...
Eye2Gene Study Survey
Assistance Required... Eye2Gene Study Survey
Dear UK-EGG member,
We are conducting a study at UCL/Moorfields together with Oxford and Liverpool to explore the potential impact on the care pathway of AI applied to retinal imaging of people affected by inherited retinal diseases (IRDs).
We would be very grateful if you complete a survey for use within the Eye2Gene study. (this link will give you all the information about the study).
The survey can be found at the link here: https://qualtrics.ucl.ac.uk/jfe/form/SV_3Da7YpKP2acPHQq
The survey should take no longer than 15 minutes of your time. If anything is unclear in the survey, or you have any questions, please contact Dr Tiyi Morris tiyi.morris@ucl.ac.uk.
Sent on behalf of
CI Nikolas Pontikos, UCL , and Eye2Gene team
Postdoctoral Research Associate in Molecular Neuroscience
– Cardiff University
Applications are invited for a Postdoctoral Research Associate to join Professor Marcela Votruba’s Mitochondria and Vision Research laboratory as a part of a multidisciplinary project supported by The British Medical Association Dawkins and Strutt (2023) grant entitled: “Mitochondrial transplantation for retinal ganglion cell rescue and health in mitochondrial optic neuropathies“, at the School of Vision Sciences, College of Biomedical and Life Sciences, Cardiff University. The successful applicant will work as part of multi-disciplinary group with an international reputation for studies into mitochondrial optic neuropathies and novel therapeutic interventions, ranging from preclinical and experimental to clinical trials supervised by clinician scientist Professor Votruba. Candidates with strong research experience and publication track records in cell and molecular biology are highly recommended to apply for this position.
Mitochondrial optic neuropathies (MON) affect at least 1 in 10,000 worldwide. They are characterised by the dysfunction of mitochondria due to defects in either nuclear or mitochondrial DNA. In MON, mitochondrial dysfunction drives visual dysfunction due to loss of RGCs, resulting in progressive and irreversible loss of vision, often starting in childhood and early adulthood. RGC degeneration is extremely hard to repair or regenerate. This leads to significant disability as loss of vision in childhood or early adult life leads to problems with mobility, employment, and independence.
This project is for a pilot study to test if mitochondrial transplantation by stem cell horizontal transfer leads to a meaningful and durable increase in mitochondrial activity in a mouse model of MON.
Please read the Job Description and Person Specification very carefully. To ensure that you demonstrate how you meet all the essential criteria in your Supporting Statement, you can use the criteria as headings to guide your application. Similarly, show how you meet as many of the desirable criteria as you can. It is unlikely that any one candidate will be able to cover all the desirable criteria as this is the position is inherently interdisciplinary. Please do not be put off if you can only meet a few of them, as you will have the opportunity to learn additional skills as part of the position.
The position is fully funded for one-year, full-time, fixed term, with an intended immediate start date. The start date is negotiable, if necessary, and will be mutually agreed upon after an offer is made.
Salary: £35,333 – £42,155 per annum (Grade 6)
Please note that it is not expected that we will appoint above grade 6.30.
For informal enquires please contact Professor Marcela Votruba: votrubam@cf.ac.uk
Cardiff University reserves the right to close this vacancy early should sufficient applications be received.
Cardiff University is committed to supporting and promoting equality and diversity and to creating an inclusive working environment. We believe this can be achieved through attracting, developing, and retaining a diverse range of staff from many different backgrounds. We therefore welcome applicants from all sections of the community regardless of sex, ethnicity, disability, sexual orientation, trans identity, relationship status, religion or belief, caring responsibilities, or age. In supporting our employees to achieve a balance between their work and their personal lives, we will also consider proposals for flexible working or job share arrangements.
Stargardt’s Connected have partnered with
Fight for Sight for the Small Grant Award
On the behalf of Bhavna Tailor, from Stargardt’s Connected
Stargardt’s Connected have partnered with
Fight for Sight for the Small Grant Award
If you have a project or know of any other researchers that may benefit from this grant please can you pass the information to them. The award is up to £15,000 to clinical or research scientists to conduct stand-alone research projects for up to 12 months. The research project needs to address sight loss associated with Stargardt’s disease, which will move research in this area forward.
You can visit the Fight for Sight website for more details and to access the online grant management system.
For any queries during the process, please email grants@fightforsight.org.uk.
Closing date is September 13th, 13:00
UK-EGG
The UK Eye Genetics Group was set up in 2002 for ophthalmic clinicians and clinical geneticists with a specialist interest and expertise in ophthalmic genetics, to keep up to date in the field of clinical ophthalmic genetics which is a rapidly evolving specialty.
UK-EGG
23 years of support for ophthalmic clinicians and clinical geneticists
























