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

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 Annual Conference Edinburgh 2023
– Annual Meeting Report

UK-EGG 2023 Report

9th June; Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK

Chloe M. Stanton, UK-EGG Treasurer and part of the 2023 Annual Conference organising team,
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh

Delegates including ophthalmic clinicians, clinical geneticists, genetic counsellors and research scientists travelled to Edinburgh from across the UK and Europe to attend the UK Eye Genetics Group (UK-EGG) annual conference. This meeting was a fantastic opportunity to catch up with the latest developments in eye genetics and with others with a shared interest in the genetics of eye disease.

Reflecting the diverse membership of UK-EGG, speakers highlighted a wide range of research in ophthalmic genetics. Starting with an exciting session on developmental eye disorders, Dr Nikki Hall provided a clinical overview focused on diagnosis and genetics. This was followed by two research talks; Dr Joe Rainger describing work to understand tissue fusion processes in coloboma using chicks as a model system, and Dr Shipra Bhatia highlighting in vivo and ex vivo models to uncover the impact of disease-associated sequence variants in the non-coding genome. Shifting focus, Dr David Gilmour from Glasgow gave us a local PI’s perspective on Clinical trials for the IRDs and we heard from Dr Miguel Bernabeu about utilising the retina as a unique window to investigate systemic microvascular health. This could allow monitoring of population health and delivery of inexpensive diagnostics – look out for more from the Scottish Collaborative Optometry-Ophthalmology Network e-research (SCONe)!

In a Genomic Diagnosis session, Samantha Malka shared insights and case studies on genetic counselling in the era of whole genome sequencing. Dr Jamie Ellingford gave a masterclass in variant interpretation for improving genetic diagnosis of eye diseases. Dr Roly Megaw hosted a patient perspective by inspirational Paralympic athlete Libby Clegg MBE. These talks stimulated plenty of discussion, as did excellent poster sessions, early career researcher talks and clinical case studies.

The meeting closed with keynote speaker Prof. Elfride de Baere describing elegant studies to elucidate disease-relevant differential cis-regulatory interactions in the 3D genome, including thoughtful connections to talks earlier in the programme. At the drinks reception, the poster prize was awarded to Fay Newton from University of Edinburgh (Mechanisms of Photoreceptor Degeneration in an Rpgr Mutant Model of Retinitis pigmentosa). Best oral research presentation was won by Thomas Julian from the University of Manchester (Phenome-wide Mendelian randomisation analysis provides causal insights into glaucoma and age-related macular degeneration).

Special thanks to the speakers, our host at the Institute of Genetics and Cancer, Prof. Wendy Bickmore, sponsors BluePrint Genetics and Novartis for their support and to UK-EGG and the local team in Edinburgh for organising a fantastic annual meeting in Edinburgh. Don’t miss next year’s meeting in Liverpool!

UK-EGG Annual Conference Edinburgh 2023
Recordings Available for Members-Only


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.


20 years of support for ophthalmic clinicians and clinical geneticists