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.

News Archive

EVER Secretary General Sought

European Association for Vision and Eye Research is seeking a
Secretary General to commence February 2023, for a five-year term

Dear Colleagues,

We are looking for a new European Association for Vision and Eye Research Secretary General to commence February 2023, for a five-year term.

Personal Specification:
We are looking for an energetic, enthusiastic, committed, and passionate individual who would relish the opportunity to shape the future of EVER and work towards maintaining a vibrant and flourishing association.

This is an excellent opportunity to mould and influence the EVER association. There is plenty of opportunity to expand networks and engage with researchers and clinicians and companies. The role is as big as the individual wants to make it. Routine, day to day operational needs are ably supported by OIC.

The individual should ideally have some knowledge and experience of EVER by having been involved in the past as a Board Member, or if not, at least an active Member, with evidence of commitment to their section.

The candidate must be a paid EVER member of good standing.

Summary of Role:
To support the EVER President, Treasurer, Programme Secretary and OIC in discussions, decision making and occasional initiatives.
To compile agendas for twice yearly Board and annual General Assembly meetings.
To review the minutes of these meetings and liase with Board members and all members on some actions.
To advise other executive board members time to time as required on operational decisions.

Informal enquiries can be made to Prof Marcela Votruba (email: votrubam@cf.ac.uk).

Candidates for General Secretary are nominated by a subcommittee of the Board, comprising, the current President, President Elect, and immediate Past President and Treasurer and Programme Secretary, and then elected via mail ballot by the general membership.

Candidates nominated by the EVER sub-committee, will be asked to provide a one-page CV and a 250-word Expression of Interest.

This will be put on the EVER website and a ballot launched. An election is held balloting all EVER Members (either face-to-face or by email/ electronic).

Dates, timelines and deadlines to be confirmed.

Best wishes,
Marcela

Bristol 2022 – Report

Here is the Report of the UK-EGG Annual Conference 2022, held in Bristol on the Friday 17th June, 2022 at the Watershed, One Canon’s Road, Harbourside, Bristol BS1 5TX

UK-EGG 2022 Report

17th June; The Watershed, Bristol, UK and Virtual

Chloe M. Stanton, Co-Director of Seminars for UK-EGG, MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh

The UK Eye Genetics Group (UK-EGG) annual meeting offers an opportunity to catch up with the latest developments in eye genetics and with others with a shared interest in the genetics of eye disease. Delegates including ophthalmic clinicians, clinical geneticists, genetic counsellors and research scientists, from across the UK and further afield, attended the 2022 meeting in person or virtually.

Reflecting the diverse and growing membership of UK-EGG, speakers highlighted a wide range of research in ophthalmic genetics. During an exciting session on population eye genetics, Dr Emma Baple shared insights into inherited eye disorders gleaned from community studies, before Profs. Jeremy Guggenheim and Cathy Williams described recent developments in myopia genetics. Gene therapy proved to be a hot topic: Prof. Patrick Yu Wai Man gave an update on this approach to treat Leber hereditary optic neuropathy, and Prof. Dominik Fischer provided a breaking news update on the real-world safety and effectiveness of voretigene neparvovec in the PERCEIVE study. Elegant molecular genetics also featured. Dr Jörn Lakowski described using retinal organoids to model retinal development and disease. Prof. Davide Pisani gave a molecular overview of the remarkable evolutionary history of vision. The keynote speaker was renowned genetic epidemiologist Prof. George Davey Smith, whose illuminating talk explained how Mendelian randomization can help to identify modifiable causes of disease in conditions including age-related macular degeneration (AMD).

UK-EGG 2022 was held in partnership with the British Society of Clinical Electrophysiology and Vision (BriSEV). Dr Ruth Hamilton, President of International Society for Clinical Electrophysiology of Vision (ISCEV) and Secretary of BriSEV, reviewed the important role of visual electrophysiology in diagnosis and phenotyping of eye disease, and highlighted elearning programmes available. The meeting also featured inspiring talks and discussion relating to patient experience, with Dr Andy Flack introducing the audience to an arts/ability project with vision impaired people, and Dr Amanda Churchill hosting a patient perspective.

These talks stimulated plenty of discussion, as did excellent poster sessions, early career researcher talks and clinical case studies. The poster prize was awarded to Weijen Tan from Great Ormond Street Hospital (Outcomes and challenges of Voretigene Neparvovec gene therapy in the paediatric population). Best oral research presentation was won by Ana Villaplana-Velasco from the University of Edinburgh (Fine-mapping of retinal vascular complexity loci identifies Notch signalling regulatory variants supporting a shared mechanism with myocardial infarction outcomes).

Special thanks to Dr Denize Atan (Co-Chair, UK-EGG) and the UK-EGG team for organising a fantastic annual meeting in Bristol, and to event sponsors Chiesi Group, Leadiant and Novartis for their support.

Don’t miss next year’s meeting in Edinburgh!

Bristol 2022 – Photographs

Here are a selection of photographs from the UK-EGG Annual Conference Bristol 2022

Gregor Johann Mendel – Bicentenary Celebrations

Registration Now Open...

The MRC Integrative Epidemiology Unit at the University of Bristol is celebrating 200 years since the birth of Gregor Mendel – a figure who is widely considered to be the founder of modern genetics.

This 2-day conference that will bring together leading authorities in genetics from across the World is free to attend online on 20th/21st July 2022.

More details are available here: http://www.bristol.ac.uk/integrative-epidemiology/seminars/mendel_200/. “

UK-EGG – Join us on the UK-EGG Committee

We are looking to recruit an enthusiastic and motivated individual to join the UK-EGG Committee as Treasurer

Registration Now Open...

The main responsibilities of the role will be to manage the income and expenditure of UK-EGG and provide a detailed financial report for annual general meeting (AGM) at the annual conference. The holder of the role will manage financial planning and budgeting; and become integral members of the UK-EGG team, taking part in our regular committee meetings and discussions (4-5 teleconferences per year) chaired by the co-Presidents, Denize Atan and Mariya Moosajee. Due to the key responsibilities of the role, the term will be for two years.

There is no remuneration for the role(s) (nor for any of the UK-EGG Executive Committee roles) except for registration and travel costs to the annual UK-EGG meeting.

Informal enquiries about the role(s) can be directed to the co-presidents, Denize Atan (denize.atan@bristol.ac.uk) and Mariya Moosajee (m.moosajee@ucl.ac.uk). Applications should be by submission of a CV and a half-page statement covering your motivation and your experience to Cecile Mejecase (c.mejecase@ucl.ac.uk) 19th June 2022.”

UK Eye Genetics Group 2022 Annual Conference

Bristol 2022 – Venue Relocation

Registration Now Open...

Due to a fire that has caused serious damage to the original venue for our UK-EGG annual meeting, We The Curious, we have had to relocate the meeting to a different venue.

Fortunately, we have been able to secure the excellent Watershed in Bristol (https://www.watershed.co.uk/) for the same date of Friday 17th June to cause minimal inconvenience to those who have already registered for the meeting and submitted their abstracts.

About us | Watershed
Based in Bristol, Watershed has three cinemas, the Pervasive Media Studio and a café & bar. As a charity we advance education, skills, appreciation and understanding of the arts with a particular focus on film, media and creative technologies.

The Watershed is an arts cinema with excellent conference facilities and catering. Like We The Curious, the Watershed is located in central Bristol in the Harbourside area. It is fully accessible to those with visual and hearing impairments and the venue is Guide Dog friendly.

Full conference programme details will follow shortly.

The meeting will finish with an evening drinks reception in the Watershed bar/restaurant overlooking the beautiful Bristol Harbourside.

Remember, to register for the meeting, please click here or scan QR code below:

Annual Conference – Programme and Flyer Downloads

Registration Now Open...

UK-EGG – Join us on the UK-EGG Committee

We are looking to recruit an enthusiastic and motivated individual to join the UK-EGG Committee as Treasurer

Registration Now Open...

The main responsibilities of the role will be to manage the income and expenditure of UK-EGG and provide a detailed financial report for annual general meeting (AGM) at the annual conference. The holder of the role will manage financial planning and budgeting; and become integral members of the UK-EGG team, taking part in our regular committee meetings and discussions (4-5 teleconferences per year) chaired by the co-Presidents, Denize Atan and Mariya Moosajee. Due to the key responsibilities of the role, the term will be for two years.

There is no remuneration for the role(s) (nor for any of the UK-EGG Executive Committee roles) except for registration and travel costs to the annual UK-EGG meeting.

Informal enquiries about the role(s) can be directed to the co-presidents, Denize Atan (denize.atan@bristol.ac.uk) and Mariya Moosajee (m.moosajee@ucl.ac.uk). Applications should be by submission of a CV and a half-page statement covering your motivation and your experience to Cecile Mejecase (c.mejecase@ucl.ac.uk) 19th June 2022.”

UK-EGG Webinar 7 – Registration Now Open…

Technological Advances for Diagnosis and Support for People with Visual Impairment

Registration Now Open...

You are warmly invited to join us for the next in our series of webinars for the UK Eye Genetics community, focused on technological advances for diagnosis and support of the visually impaired. This webinar will be held on Tuesday 10th May from 5.30-7.00 pm.

Registration is now open: https://us02web.zoom.us/webinar/register/WN_oZI7dU0gSvmePqm-IWo7dQ

We have three fantastic speakers lined up and there will be plenty of time for discussion and questions.

Titles and speakers as follows:

Pete R Jones, non-clinical lecturer in optometry & visual sciences at City, University of London
“Home-monitoring of vision: The next big thing, or an impossible pipedream?”

Hannah Dunbar, specialist low vision optometrist at Moorfields Eye Hospital and Senior Research Fellow at the UCL Institute of Ophthalmology
“Technologies to empower people with visual impairment”

James Buller, Accessibility and Digital Inclusion Consultant
“Meeting access needs with and without technology”

Please feel free to share this information widely amongst your colleagues and encourage them to join our UK-EGG community in order to attend. 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.

If you have any questions, please do not hesitate to contact Chloe Stanton (chloe.m.stanton@ed.ac.uk) or Neeru Vallabh (neeruvallabh@hotmail.co.uk), Co-Directors of Seminars for UK-EGG.

Peter R Jones

Hannah Dunbar

James Buller

Breaking News –
British Society for Clinical Electrophysiology of Vision Partnership

We are partnering with the British Society for Clinical Electrophysiology of Vision (BriSCEV) at our annual UK EGG meeting on 17th June 2022.

BriSCEV are also partnering with the International Society for Clinical electrophysiology of Vision (ISCEV) for their annual symposium in Liverpool between 1st to 5th August 2022 that is now open to registration and abstracts. Please circulate the attached flyer among your networks.

Don’t forget! – register NOW for the UK EGG annual meeting in Bristol with an early bird discount and to submit your abstract for the Early Career Researcher session and/or the clinical genetic case session

BriSCEV Flyer – PDF

Best wishes

The UK-EGG Committee

Bristol 2022 Sponsors Announced

We are very pleased to announce that Chiesi, Novartis and Leadiant are very generously sponsoring our UK Eye Genetics Group annual meeting in Bristol on 17th June 2022.

Don’t forget !there are less than two weeks to go to submit an abstract and the chance to win a prize for the best poster of the meeting or the best oral presentation in the Early Career Research session.  Please circulate the attached flyer via all your research and clinical distribution networks!

Bristol 2022 Flyer – PDF

We very much look forward to seeing you at the meeting!

Best wishes

The UK-EGG Committee

UK Eye Genetics Group Bristol 2022 – QR Codes

To register for the meeting,
click here or scan here:

To submit your abstract,
please
click here or scan here:

To submit a genetic case or case series for discussion, click here or scan here:

UK Eye Genetics Group 2022 Annual Conference

Bristol 2022 – Online Shop for Registration

Registration Now Open...

“Registration is now open for the annual conference of the UK Eye Genetics Group on Friday 17th June 2022 at We the Curious in the beautiful city of Bristol.

We are excited to be working in partnership with the British Society of Clinical Electrophysiology and Vision (BriSEV). The day will include sessions on clinical, molecular and population eye genetics, clinical electrophysiology, genetic case discussions, short talks and posters by early careers researchers, and talks by people affected by inherited eye disease.

Confirmed speakers include Professors Jeremy Guggenheim and Cathy Williams (myopia epidemiology and genetics), Professor Davide Pisani (comparative evolution of opsins and vision), Dr Emma Baple (community genomics research and new discoveries in eye genetics from 100,000 genomes), Jorn Lakowski (retinal organoids and gene editing to study Retinitis Pigmentosa), Dr Patrick Yu Wai Man (gene therapy trials for Leber’s Hereditary Optic Neuropathy), Dr Ruth Hamilton (President of ISCEV and Secretary of BriSEV), Dr Andy Flack (historical perceptions of visual impairment).

The keynote speaker is the internationally renowned genetic epidemiologist Professor George Davey Smith.

The meeting will be held in person and all talks will be streamed live. The venue, We The Curious, is fully accessible for those with sight and hearing impairments and it is Guide Dog friendly.

Call for abstracts and clinical genetic cases:

To submit abstracts for poster and/or oral presentations in the Early Career Researcher session, click here to access the submission portal. Oral presentations will be maximum 10 minutes, including questions.

To submit a case or case series for the session on clinical genetic cases, click here to access the submission portal. Case presentations will be maximum 10 minutes, including discussion.

All abstracts for oral and poster presentations and genetic cases will be subject to peer review before acceptance. Submissions will close on 17th April 2022 and successful submissions will be notified by 6th May 2022. Prizes will be awarded at the end of the conference for the best oral and poster presentations.

Tickets

Early Bird Discounted Registration is available until 17th April 2022 and full price tickets will be available until the day of the conference. UK EGG members are entitled to £25 discount.

You can register for the conference by clicking the following link to the online shop:

https://shop.bris.ac.uk/conferences-and-events/faculty-of-health-sciences/uk-egg/uk-eye-genetics-group-2022-annual-conference

We look forward to seeing you there,

UK EGG organising committee

UK-EGG Webinar 6 – Registration Now Open…

The Challenges of Variant Interpretation in Genetic Eye Disease

Registration Now Open...

You are warmly invited to join us for the next in our series of webinars for the UK Eye Genetics community, focussed on the challenges of variant interpretation in genetic eye disease. This webinar will be held on Tuesday 25th January from 5.30-7.00 pm.    

Registration is now open: https://us02web.zoom.us/webinar/register/WN_vHQWs3T6QbepL4yhva_4DQ 

Our fantastic speakers will provide insight into the challenges of variant interpretation in the lab, clinic and for genetic counselling of patients.  

Confirmed speakers: 

Hannah Knight – Genetic Counsellor, Moorfields Eye Hospital NHS Foundation Trust 

Dr Joseph Marsh – Institute of Genetics and Cancer, University of Edinburgh 

Prof Elfride De Baere – Center for Medical Genetics, Ghent University 

Please feel free to share this information widely amongst your colleagues and encourage them to join our UK-EGG community in order to attend. 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.  

If you have any questions, please do not hesitate to contact Chloe Stanton (chloe.m.stanton@ed.ac.uk) or Neeru Vallabh (neeruvallabh@hotmail.co.uk), Co-Directors of Seminars for UK-EGG.

UK-EGG Webinar 6 – Save the Date…

The Challenges of Variant Interpretation in Genetic Eye Disease

Please save the date for the next in our series of webinars for the UK Eye Genetics community, focussed on the challenges of variant interpretation in genetic eye disease. This webinar will be held on Tuesday, 25th January from 5.30-7.00 pm.   

We have some fantastic speakers lined up to provide insight into the challenges of variant interpretation in the lab, clinic and for genetic counselling of patients. Further information and registration details will be released soon – please join us on the night to ask questions and take part in discussion with our panel.   

Please feel free to share this information widely amongst your colleagues and encourage them to join our UK-EGG community in order to attend. 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. 

If you have any questions, please do not hesitate to contact Chloe Stanton (chloe.m.stanton@ed.ac.uk) or Neeru Vallabh (neeruvallabh@hotmail.co.uk), Co-Directors of Seminars for UK-EGG.

UK-EGG Webinar 5 Recording – Available for Members

Novartis UK Understanding IRDs Webinar Series:
Management pathway of patients with IRDs

Thursday 28th October, 19:00 – 20:00

UK-EGG Webinar 5 – Save the date…

Whole Genome Sequencing (WGS) in UK Eye Genetics Clinics

Please save the date for the next in our series of webinars for the UK Eye Genetics community, focussed on Whole Genome Sequencing (WGS) in UK Eye Genetics Clinics. This webinar will be held on Tuesday 23rd November from 5.30-7.00 pm.  
WGS is now available on the NHS to test your inherited eye disease patients. We have some fantastic speakers lined up to provide insight into the challenges and opportunities that the use of whole genome sequencing presents to patients, clinicians, clinical scientists and genetic counsellors. Further information and registration details will be released soon – please join us on the night to ask questions and take part in discussion with our panel about this important development for the genetics of eye disease in the UK.  

Please feel free to share this information widely amongst your colleagues, and encourage them to join our UK-EGG community in order to attend. 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.

If you have any questions, please do not hesitate to contact Chloe Stanton (chloe.m.stanton@ed.ac.uk) or Neeru Vallabh (neeruvallabh@hotmail.co.uk), Co-Directors of Seminars for UK-EGG.

UK-EGG Annual Meeting – Registration Store OPEN

Please join us on Tuesday, 21st September, 2021 at the Francis Crick Institute,
London for the UK Eye Genetics Group Annual Meeting

Early Bird pricing, saving £25, is available up to the 22nd August. UK-EGG Members also receive a further 20% on total.
To receive Members’ discount, please login using your membership username and password. If not a member, why not consider becoming one, you can purchase membership using the link below. If you have any queries email us at UKeyegenetics@gmail.com

UK-EGG Members receive an automatic 20% discount on Meeting Registration
Login using your membership username and password to access discount
To join UK-EGG use above Membership product button

UK-EGG Annual Meeting Programme

UK-EGG Annual Meeting – London 2021 – Programme now available

Novartis UK Understanding IRDs Webinar Series:
Clinical diagnosis of IRDs

Thursday 10th June, 19:00 – 20:00

UK-EGG Webinar 5 - Registration NOW

UK-EGG Webinar 5: Whole genome sequencing (WGS) in UK Eye Genetics Clinics

You are warmly invited to join us for the next in our series of webinars for the UK Eye Genetics community, focussed on Whole genome sequencing (WGS) in UK Eye Genetics Clinics. This webinar will be held on Tuesday 23rd November from 5.30-7 pm. Registration is now open:  https://us02web.zoom.us/webinar/register/WN_VzMO-6baR_WnXWnIn9OKnw 

UK-EGG Webinar 5:
Whole genome sequencing (WGS) in UK Eye Genetics Clinics

 
WGS is now available on the NHS to test your inherited eye disease patients. Our fantastic speakers include:
Dr. Ellen Thomas, Genomics England
Thomas Cullup, Great Ormond Street Hospital
Samantha Malka, Moorfields Eye Hospital
A patient perspective
 
Our panel will provide insight into the challenges and opportunities that the use of whole genome sequencing presents to patients, clinicians, clinical scientists and genetic counsellors. Please join us on the night to ask questions and take part in discussion with our panel about this important development for the genetics of eye disease in the UK.  
 
Please feel free to share this information widely amongst your colleagues, and encourage them to join our UK-EGG community in order to attend. 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.
If you have any questions, please do not hesitate to contact Chloe Stanton or Neeru Vallabh, Co-Directors of Seminars for UK-EGG.

Dr. Erwin van Wijk is an Assistant Professor at the Department of Otorhinolaryngology and the Donders Institute for Brain, Cognition and Behaviour (Radboud University Medical Center, Nijmegen, The Netherlands). He is head of the Usher Syndrome & Hereditary Hearing Loss Therapeutics Research Unit. His work to develop a genetic therapy for USH2A-associated retinal degeneration employing the zebrafish model has led to the use of antisense oligonucleotides (QR-421a) to modulate splicing of the frequently mutated exon13 of USH2A, for which the phase 1/2 clinical trial Stellar showed promising results. His research team works on the molecular mechanisms underlying Usher syndrome, non-syndromic inherited retinal dystrophies and inherited hearing impairment, and develops new treatment strategies for the many visually and hearing impaired individuals worldwide.

Professor Robert MacLaren is a practising Consultant Ophthalmologist at the Oxford Eye Hospital. He specialised first in Oxford and then moved to Moorfields Eye Hospital in London, where he was a Consultant Vitreoretinal Surgeon and led research into age-related macular degeneration. He returned to Oxford as Professor of Ophthalmology in 2009 and currently leads a research team in the Nuffield Laboratory of Ophthalmology. He welcomes clinical referrals for patients requiring cataract surgery, retinal surgery and other treatments for retinal diseases.

Mr Robert Henderson is a Consultant Paediatric Ophthalmologist and Adult & Paediatric Vitreoretinal surgeon at Great Ormond Street Hospital and Moorfields Eye Hospital. He is an Honorary Associate Professor at the UCL-GOSH Institute of Child Health. He has an expertise in both surgical and genetic paediatric retinal disease. He runs the inherited retinal dystrophy clinic at Great Ormond Street, and has pioneered a new dual sensory clinic for families with hearing and visual impairment. Mr Henderson leads the Voretigene ocular gene therapy programme, at Great Ormond Street, and is the UK Chief Investigator for the phase 4 post authorisation study. 

His research programme is investigating the role of Wnt signalling pathways in retinovascular diseases, and he is starting a novel trial of intravitreal Cerliponase for the treatment of CLN2 related Battens Disease retinal dystrophy.

Members-Only areas coming SOON

Access to certain areas of the UK-EGG website are being made ‘Members-Only’, this includes recordings of Webinars and Meetings

Accounts for UK-EGG members have already been created. Over the next week, emails will be going out to all members, requesting that they reset their UK-EGG website password. When you receive this email, unless you have already used your account and know your password, either accept and note your password, or change it. Once this is done then please return to UK-EGG.com and login to your account. I suggest that the next thing that you do is explore the https://ukegg.com/webinar-recordings/ page and catch up on the excellent Webinars that have been held over the past months.

Geoff Cross – UK-EGG web site

UK-EGG Webinar 3 – Agenda

5:30pm:   Introduction

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

Oral presentations

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.

Manara Gul

Genetic Counsellor
Supervisor: Roberta Rizzo
University of Cardiff

Retrospective natural history study of a UK cohort of cerebrotendinous xanthomatosis

Suzannah Bell

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

Helen Kuht

Research Orthoptist

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

Amy Findlay

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

All UK-EGG members are warmly invited to join the third in our 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 third webinar will highlight the work of our early career members from all areas of UK Eye Genetics and will be held on Thursday, 15th April from 5.30pm to 7.00pm.
We have posters and short talks lined up, selected from abstracts submitted by our early career members from different areas of UK Eye Genetics. Please register for the webinar to support your colleagues and to join in with questions and discussion.
Full speaker line up will be available soon here on the UK-EGG website.
Please feel free to share this information widely amongst your colleagues, and encourage them to join our UK-EGG community in order to attend. 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/
If you have any questions, please do not hesitate to contact Chloe Stanton or Neeru Vallabh, Co-Directors of Seminars for UK-EGG.

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 (chloe.stanton@igmm.ed.ac.uk) or Neeru Vallabh (neeruvallabh@hotmail.co.uk) 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

If you have any questions, please do not hesitate to contact Chloe Stanton (chloe.stanton@igmm.ed.ac.uk) or Neeru Vallabh (neeruvallabh@hotmail.co.uk), Co-Directors of Seminars for UK-EGG.

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/

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.

Presenter:

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.

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

Book Your Seat NOW – UK-EGG Webinar 2

One week to go… UK-EGG Webinar 2

All UK-EGG (UK Eye Genetics group) members are warmly invited to join the second 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 second webinar is a Research Update on Visual Impairment in Ciliopathies and will be held on Wednesday 13th of January from 5.30-7.00 pm.

We have 4 fantastic speakers lined up and there will be plenty of time for discussion and questions.

Titles and Speakers as follows:

The Ciliopathy Alliance: Speaking up for patients
Professor Hannah Mitchison

Prof. Hannah Mitchison is a Professor of Molecular Medicine at University College London, based in the UCL Great Ormond Street Institute of Child Health. She is Head of the Cilia Disorders Section and her research focusses on the cell biological and genetic causes of human disorders arising from cilia dysfunction, in particular motile and skeletal ciliopathies. Her group investigate how we build and maintain our cilia motility, translating this into development of new genetic-based therapies. She participates in the 100,000 Genomes Project and is working with an EU-funded team to build the first motile ciliopathy mutation database, CiliaVar. Hannah is on the UK Cilia Network management team and is a Trustee of the Jeune Syndrome Foundation and also of Ciliopathy Alliance, which launched the EMBO ‘CILIA’ conference series.

Ciliopathies: the clinical and structural basics
Dr J Ainsworth

Dr John Ross Ainsworth BM BS BmedSc (Nottm) FRCS(Ed) FRCOphth is a specialist in Paediatric Ophthalmology and Strabismus based at Birmingham Children’s Hospital. The unit undertakes tertiary referral and national services for many aspects of children’s eye care, as well as delivering local services. Dr Ainsworth also works at Birmingham and Midland Eye Centre, the second largest eye hospital in the UK, where he delivers a multidisciplinary genetics clinic and a paediatric ophthalmology one-stop diagnosis service.
Dr Ainsworth has developed a series of specialist services within paediatric ophthalmology, based around retinal conditions such as retinoblastoma / genetics / ROP, as well as the regional paediatric uveitis service. Wide research and clinical interests have resulted in over 80 publications to date.

Beyond photoreceptors: How cilia help us see
Junior Professor Dr Helen May-Simera

Jun. Prof. Dr Helen May-Simera is a junior professor at the Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Germany. Her research on the role of cilia in developmental processes with an emphasis on regulating signalling pathways is now focussed on the role of the primary cilium in the vertebrate eye. In 2014 Helen was awarded the prestigious Sofia Kovalevskaja award by the Alexander von Humboldt Foundation, allowing her to continue her research at the University of Mainz, Germany as a young group leader. She has received numerous research awards including the NIH Fellows Award for Research Excellence (2012, 2014) and has published over 30 research and review articles on cilia and ciliopathies. Since 2017 she has been a founding member of the BBS UK Medical Advisory Board.

A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in retinal ciliopathies
Dr Gabrielle Wheway

Dr Gabrielle Wheway is a Lecturer in Functional Genomics within the Faculty of Medicine at the University of Southampton and Secretary of the UK Eye Genetics Group. Her research group focusses on the use of gene editing, genomics and transcriptomics to improve diagnosis and understanding of ciliopathies, particularly retinal ciliopathies. She has a particular interest in understanding the role of splicing in ciliopathies, and in developing methods for characterisation of genetic variants of unknown clinical significance in ciliopathies. She is an active member of several Genomics England Clinical Interpretation Partnerships including Hearing and Sight and Paediatrics. She is a member of the Ciliopathy Alliance and was awarded RP Scientist of the Year Award 2017 by RP Fighting Blindness. She has published more than 30 research and review articles and book chapters on cilia and ciliopathies.

Registration is FREE for UK-EGG members:

Registration is free for UK-EGG members and is now open: https://us02web.zoom.us/webinar/register/WN_6Ma8CQcwS0iBoUyZzPPZgQ

Please feel free to share this information widely amongst your colleagues, and encourage them to join our UK-EGG community in order to attend. 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 3: UK Eye Genetics – Early Career Researchers
5.30 – 7 PM Thursday 15th April 2021

Webinar 4: Gene Therapy in UK Eye Genetics
5.30 – 7 PM Tuesday 6th July 2021

If you have any questions, please do not hesitate to contact Chloe Stanton (chloe.stanton@igmm.ed.ac.uk) or Neeru Vallabh (neeruvallabh@hotmail.co.uk), Co-Directors of Seminars for UK-EGG.
Join the conversation @UKEyeGenetics #UKEGG

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/

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.

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.

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

Update on Genomic Services from NHS England summarised by Dr Penny Clouston, Clinical Scientist Representative for UK-EGG

Image Credit:  Glasgow Science Centre

COVID-19 UPDATE – SUSPENSION OF NON-URGENT GENOMIC SERVICES

Effective Friday 27th March 2020

 

Dear Colleagues,

In response to the COVID-19 pandemic, NHS England has issued guidelines to genomic laboratories on the prioritisation of work to ensure the continued delivery of services for rare disease and cancer patients with urgent clinical need and to release laboratory capacity to support COVID-19 testing.

http://goto.rsb.org.uk/rsb0rohe

Until further notice, genomic diagnostic services will be directed to the following groups of patients:

  • Pregnant women undergoing prenatal diagnosis
  • Patients needing urgent advice on carrier testing relating to pregnancy (e.g. cystic fibrosis, thalassaemia)
  • Those with abnormal fetal scans; critically ill neonates and children requiring assessment and those for whom the rapid PICU/NICU Whole Exome Sequencing (WES) is appropriate
  • New-born screening programmes (e.g. cystic fibrosis, MCADD)
  • Conditions where rapid genetic testing may alter clinical treatment or decision making (e.g. BRCA testing to inform chemotherapy options)

Laboratories will continue to process and test all samples received for urgent testing.

Please do not send non-urgent samples until further notice. Any non-urgent samples received will be processed (DNA/RNA extraction or cell culture) and stored.

We would like to thank you for your patience and continued support during this time.

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. 

Please feel free to share this information widely amongst your colleagues, and encourage them to join our UK-EGG community in order to attend. 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/
If you have any questions, please do not hesitate to contact Chloe Stanton (chloe.stanton@igmm.ed.ac.uk) or Neeru Vallabh (neeruvallabh@hotmail.co.uk), Co-Directors of Seminars for UK-EGG.”

2019 Glasgow UK-EGG Annual Meeting Report


The 2019 UK-EGG annual meeting was held in Glasgow on 8th November 2019. 57 people attended and we received overwhelmingly positive feedback about the overall content of the sessions and the overall organisation of the meeting (more than 76% of you thought these were “excellent”). Many of you commented on the interesting variety of talks, and the high quality of presentations across the board. We were also pleased to hear that you enjoyed the friendly atmosphere of the meeting, and thought that the venue and catering were excellent.

We improved poster presentations on last year (35% of you thought these were just “adequate” or “good”, compared to 61% last year) but we will continue to strive to improve this for next year. In order to display more posters and have more free papers we need more abstract submissions so we would urge you to send abstracts and unusual or unsolved clinical cases in good time. Congratulations to our two winners of the prizes for the best free paper (Siying Lin) and poster (Chloe Stanton) – see photos below. Look out for details of the posters and free papers on the education webpage in the coming weeks.

In response to feedback we will improve the online registration process next year, including advertising more widely and providing clearer directions to the venue. We will also strive to reduce plastic waste, and provide re-usable cups next year. Finally, we will introduce timers for speakers and better microphones for speakers and audience next year.

Our 2019 Keynote speaker, Professor Veronica van Heyningen gave an excellent talk on ‘Disease to genes and biology: PAX6 and progress’ highlighting the significant improvements in both knowledge and genetic techniques over the last 30 years. The patient perspective session was particularly well-received this year, with Andrew Pettigrew entertaining us with a selection of his poems, as well as sharing with us his experience of living with a visual impairment. Our aim will be to include a patient perspective in the meeting programme where possible. It serves as a great reminder of why we have chosen to work in this area of ophthalmology.

Building on the success of last year, a specific session was set aside for genetic counsellors and nurses in genetic ophthalmology, in addition to an informal lunchtime meeting for this group of professionals. Presentations were recorded with permission from the speakers and these will be available to members only at https://ukegg.com/glasgow-2019/ Check your email for the password. Should you wish to propose a future Keynote speaker, or have any suggestion for the 2020 meeting, please let one of the committee members know.

We welcomed new members to the Executive: Denize Atan and Mariya Moosajee as joint Chairs of UK-EGG, and Gabrielle Wheway as Secretary and thanked the departing members for all their hard work over the years: Amanda Churchill (Chair), Stuart Ingram (Secretary) and Daniela Pilz (Meeting Organiser). Georgina Hall will be stepping down as Treasurer in February 2020 and replaced by Carmel Toomes.

UK-EGG would like to say a huge thank you to Daniela and everyone at Queen Elizabeth University Hospital Glasgow for such a fantastic job organising and hosting the meeting, and to Geoff Cross for providing AV services. And of course thank you to our members and attendees!

We look forward to seeing you in London on Tuesday, November 24th, 2020!

Amanda Churchill and Gabrielle Wheway

 

Patient Perspective

Poet Andrew Pettigrew and his mother Josephine Pettigrew

Who is my Hero


by A J Pettigrew

Pushkin Prize Winner 2016

 

Who is my hero?
I did know not yesterday.
However now I am certain,
that this hero will forever stay.

Though I’ve never met him,
he made my path clear,
a path to succession,
a path that will always be there.

Though troubled times break my heart,
snuffs out my inner candle.
When my eyesight and my hearing,
are far too much to handle.

Then the light flickers,
the sun shines once again;
and the joys of reading and writing,
will always make me sustain.

For though I have courage,
though I have imagination;
sometimes it proves hard,
to keep my determination.

And still my hero calls me,
still I follow in his tracks.
He makes the barriers fewer,
as the knowledge stacks.

I write my tales,
I write my songs;
to encourage my friends, my family,
to help them get along.

By friend and by family,
I mean it true in mind;
by friend and by family,
I mean the fighting blind.

Though some I have not met,
I will never truly forget,
that we’re going through the same,
with no clear accusation of blame.

We fight for independence,
we fight to kill the tenseness,
that, like a flame, always grew,
the tension between us blind and sighted you.

A love for freedom,
a love for books;
a desire for inner self,
and not a care for looks.

Never mind the clothing,
never mind their disability;
just remember their mind,
or their lovely personality.

For, without dislike in our veins,
then no changing in our brains;
no war, no fight,
no difference, like no sight.

And through the struggle,
we must make the rest realise,
that we’re all the same,
gender, colour, ears or eyes.

And who is my hero?
the hero I followed in his trail?
a man who was both kind and wise,
a man who at only three lost his eyes;
is, without doubt, without question,
without a lingering stop or hesitation,
Louis Braille.

Heaven in a Poke


by A J Pettigrew

Foyles Young Poet of the Year
Commended 2017

 

Awright, I’m no very religious
And I can be a wee bit serious,
But one thing’s fur sure
That fae a bad day there ain’t nae cure
Except mabbe
Tae hae a chippy
Git a bag aw chips,
Wi’ a smack aw ma lips!
Aw! It’s heaven in a poke!

But chips ain’t enough tae live oan
There’s somethin’ else that needs tae be dun,
Ah thing o’ love an’ care,
A treat close by, an’ always so rare!
An’ then I see it, in the shop windae
A breaded haddock, aw cooked an’ lovely!
Put the pennies doon oan the till
So starvin’ I’m oot tae kill;
Aw! It’s heaven in a poke!

Noo a got ma supper, just ma fish an’ me,
Both oot in the cold, but happy as can be
We’ve git each other, we’ll make it through,
Oh wee haddock
I need tae tell ye
I LOVE YOU!
Wi’ salt and vinegar, there’s chips too
An’ a nice can
O’ Irn Bru;
Aw! It’s heaven in a poke!

But wait jus’ wan moment, whit’s that above me?
A wee birdie flyin’ awa ‘n’ free?
Oot from a bin, tummy nae yet full;
Came chargin’ oot like a wee white bull!
With its grey wee mantle, an’ orange webbed feet,
It stole me fish supper, an I’m ready tae greet!
An’ tae say “cheers mate”, it cacked on ma skull,
Away ye go, ye bleidin’ seagull!
‘Cause …  it isnie heaven in a poke nae mare!

 

 

Glossary – 

Poke – A small paper bag

Windae – Window

Doon oan the till – Down on the cash register

Supper – Anything you purchase from a chip shop
that is accompanied by chips

Irn Bru – A traditional Scottish soft beverage

A wee birdie flyin awa ‘n’ free – A small bird flying away and free

I’m ready to greet – I’m about to cry

Cacked on ma skull – It dropped some excrement on my head.

 

Andrew perform his poems:

Who is my Hero

Heaven in a Poke

Glasgow 2019 – Prizewinners and Keynote Speaker

Poster Prize winner Chloe Stanton

Poster Prize winner Chloe Stanton

Free Paper Prize Winner Siying Lin

2019 Keynote Lecturer: Veronica Van Heyningen with President Amanda Churchill

Glasgow 2019 – Photo Gallery

UK Eye Genetic Group Committee – New Member

We would like to introduce our membership to the newest member of the UK-EGG Committee, 

Denize Atan. Denize is an Honorary Consultant Ophthalmologist specialising in Paediatric and Adult Neuro-Ophthalmology at Bristol Eye Hospital and a Senior Lecturer at the University of Bristol.

ISGEDR 2019 Meeting – Giessen – Screencasts available NOW

21st Meeting of the International Society for Genetic Eye Diseases & Retinoblastoma
a joint Meeting with Section Genetics of the German Opthalmological Society (DOG)

HD Video Screencasts of scientific sessions available HERE

Calling all Nurses

Calling all Nurses – ‘Nursing Roles in Ophthalmic Genetic Services’ Study

I am currently recruiting for my Master’s project so if you are a Registered Nurse of any grade – or a colleague of – in an Ophthalmic or Clinical Genetics Service that cares for patients with genetic/inherited eye disease I would be pleased to hear from you!

This is a short qualitative study looking at the variety of what nurses currently do in the developing world of genetic healthcare & roles, in particular in ophthalmology. Participation would involve a short questionnaire and one informal conversation-interview in person or by Skype/Facetime. GC’s welcome if you are also NMC registered and feel your role includes nursing elements. Please email me for more info…

Clare.Arnison-Newgass@postgrad.plymouth.ac.uk   Thank you.!

Therapeutic Advances in Rare Disease


Dear UK-EGG members and colleagues,
Sage Publishing are launching a new journal called Therapeutic Advances in Rare Disease in January 2020. The managing editor, Samantha Taylor, is commissioning high quality original research and review articles to be includes in the first volume. For these articles there will be no charges (open access publication will be free of charge). If any of you are interested in submitting a manuscript to the journal (or have a trainee, med student or early PhD wanting some writing experience) please email her on Samantha.Taylor@sagepub.co.uk.
Best wishes
Dr Mariya Moosaje (Joint Chair)

Moorfields/UCL Optometry Programme Launch Event

On 9th May 2019 from 7.00 p.m to 10.00pm, the Optometry Department would like to invite you to join us at the Museum of the Order of St. John to launch our new programmes; MSc in Advanced Clinical Ophthalmology and Optometry and MSc Advanced Clinical Practice in Ophthalmology (degree apprenticeship for non-medical professionals).

Further information and booking details available via Eventbrite

Birmingham 2018 – Meeting Report

The 2018 UK-EGG annual meeting was an engaging and informative event, with lectures on a wide range of subjects from a host of talented clinicians, scientists and students. 41 people attended and we received overwhelmingly positive feedback about the sessions, venue (74% of you thought these were “excellent”) and the overall organisation. We received useful suggestions for improvements on other aspects of the day, for example more poster presentations (61% of you thought these were “good”). In order to display more posters we need more abstract submissions so we would urge you to become more involved in the meeting by sending abstracts and unusual or unsolved clinical cases to the scientific committee in good time.

There was a lunchtime session specifically dedicated to genetic counsellors and we will plan specific time in the 2019 programme for topics relevant to this professional group. If you have any suggestions for this or want to be involved please contact Georgina Hall, our treasurer, and Consultant genetic counsellor. Penny Clouston gave a clear overview of the new laboratory configuration and there was very positive feedback for our 2018 Keynote speaker, Professor Robert MacLaren who gave an excellent talk on ‘Gene therapy for Retinal Diseases’. Presentations were recorded with permission from the speakers (thanks to sponsorship from ISGEDR) and these will be available to members only at https://ukegg.com/birmingham-2018. Check your email for the password! Should you wish to propose a future Keynote speaker, or have any suggestion for the 2019 meeting, please let one of the committee members know.

UK-EGG would like to say a huge thank you to Denise Williams and everyone at Birmingham Children’s Hospital for such a fantastic job organising and hosting the meeting, our sponsors, Santhera Pharmaceuticals and Leadiant Biosciences, and to Geoff Cross for providing AV services. And of course thank you to our members and attendees! Finally, we invite interested members to discuss future roles on the UK-EGG committee. We try to maintain a mix of different professionals on the committee (ophthalmologists, clinical geneticists, counsellors, scientists, laboratory staff and patient representatives), however the positions are voluntary and people rotate on/off at staggered intervals, so please contact a committee member if interested.

We look forward to seeing you in Glasgow on Friday November 8th 2019!

Executive Committee (Amanda Churchill, Georgina Hall and Stuart Ingram)

Available NOW – Birmingham 2018 – Screencasts

The Screencasts recorded of this year’s Birmingham UK-EGG Conference are available NOW and are available to view via our Screencasts section. A password is required to access this page which will be emailed to members shortly.

Prize winners UKEGG 2018

Congratulations to Sonja Mansfield Smith, Addenbrooks Hospital and Diana Butu, UCL for winning the best poster and free paper at the 2018 UKEGG meeting

2019 Glasgow UK-EGG Annual Meeting Report


The 2019 UK-EGG annual meeting was held in Glasgow on 8th November 2019. 57 people attended and we received overwhelmingly positive feedback about the overall content of the sessions and the overall organisation of the meeting (more than 76% of you thought these were “excellent”). Many of you commented on the interesting variety of talks, and the high quality of presentations across the board. We were also pleased to hear that you enjoyed the friendly atmosphere of the meeting, and thought that the venue and catering were excellent.

We improved poster presentations on last year (35% of you thought these were just “adequate” or “good”, compared to 61% last year) but we will continue to strive to improve this for next year. In order to display more posters and have more free papers we need more abstract submissions so we would urge you to send abstracts and unusual or unsolved clinical cases in good time. Congratulations to our two winners of the prizes for the best free paper (Siying Lin) and poster (Chloe Stanton) – see photos below. Look out for details of the posters and free papers on the education webpage in the coming weeks.

In response to feedback we will improve the online registration process next year, including advertising more widely and providing clearer directions to the venue. We will also strive to reduce plastic waste, and provide re-usable cups next year. Finally, we will introduce timers for speakers and better microphones for speakers and audience next year.

Our 2019 Keynote speaker, Professor Veronica van Heyningen gave an excellent talk on ‘Disease to genes and biology: PAX6 and progress’ highlighting the significant improvements in both knowledge and genetic techniques over the last 30 years. The patient perspective session was particularly well-received this year, with Andrew Pettigrew entertaining us with a selection of his poems, as well as sharing with us his experience of living with a visual impairment. Our aim will be to include a patient perspective in the meeting programme where possible. It serves as a great reminder of why we have chosen to work in this area of ophthalmology.

Building on the success of last year, a specific session was set aside for genetic counsellors and nurses in genetic ophthalmology, in addition to an informal lunchtime meeting for this group of professionals. Presentations were recorded with permission from the speakers and these will be available to members only at https://ukegg.com/glasgow-2019/ Check your email for the password. Should you wish to propose a future Keynote speaker, or have any suggestion for the 2020 meeting, please let one of the committee members know.

We welcomed new members to the Executive: Denize Atan and Mariya Moosajee as joint Chairs of UK-EGG, and Gabrielle Wheway as Secretary and thanked the departing members for all their hard work over the years: Amanda Churchill (Chair), Stuart Ingram (Secretary) and Daniela Pilz (Meeting Organiser). Georgina Hall will be stepping down as Treasurer in February 2020 and replaced by Carmel Toomes.

UK-EGG would like to say a huge thank you to Daniela and everyone at Queen Elizabeth University Hospital Glasgow for such a fantastic job organising and hosting the meeting, and to Geoff Cross for providing AV services. And of course thank you to our members and attendees!

We look forward to seeing you in London on Tuesday, November 24th, 2020!

Amanda Churchill and Gabrielle Wheway

 

2018 UK-EGG Meeting Programme

You can now download the 2018 UK-EGG Meeting Programme, Sponsorship Acknowledgements and Travel Arrangements HERE

Birmingham 2018 – Meeting Report

The 2018 UK-EGG annual meeting was an engaging and informative event, with lectures on a wide range of subjects from a host of talented clinicians, scientists and students. 41 people attended and we received overwhelmingly positive feedback about the sessions, venue (74% of you thought these were “excellent”) and the overall organisation. We received useful suggestions for improvements on other aspects of the day, for example more poster presentations (61% of you thought these were “good”). In order to display more posters we need more abstract submissions so we would urge you to become more involved in the meeting by sending abstracts and unusual or unsolved clinical cases to the scientific committee in good time.

There was a lunchtime session specifically dedicated to genetic counsellors and we will plan specific time in the 2019 programme for topics relevant to this professional group. If you have any suggestions for this or want to be involved please contact Georgina Hall, our treasurer, and Consultant genetic counsellor. Penny Clouston gave a clear overview of the new laboratory configuration and there was very positive feedback for our 2018 Keynote speaker, Professor Robert MacLaren who gave an excellent talk on ‘Gene therapy for Retinal Diseases’. Presentations were recorded with permission from the speakers (thanks to sponsorship from ISGEDR) and these will be available to members only at https://ukegg.com/birmingham-2018. Check your email for the password! Should you wish to propose a future Keynote speaker, or have any suggestion for the 2019 meeting, please let one of the committee members know.

UK-EGG would like to say a huge thank you to Denise Williams and everyone at Birmingham Children’s Hospital for such a fantastic job organising and hosting the meeting, our sponsors, Santhera Pharmaceuticals and Leadiant Biosciences, and to Geoff Cross for providing AV services. And of course thank you to our members and attendees! Finally, we invite interested members to discuss future roles on the UK-EGG committee. We try to maintain a mix of different professionals on the committee (ophthalmologists, clinical geneticists, counsellors, scientists, laboratory staff and patient representatives), however the positions are voluntary and people rotate on/off at staggered intervals, so please contact a committee member if interested.

We look forward to seeing you in Glasgow on Friday November 8th 2019!

Executive Committee (Amanda Churchill, Georgina Hall and Stuart Ingram)

An Interesting Listen

For an interesting listen, head over to Professor Nicky Ragge’s excellent piece on the Australian Radio News Channel “New techniques help genetically controlled eye conditions

2018 UK-EGG Meeting Programme

You can now download the 2018 UK-EGG Meeting Programme HERE


2018 Free Paper and Poster Abstracts

You can now preview the  Free Paper and Poster Abstracts

Register now for the UK-EGG 2018 Meeting

Birmingham_Childrens_Hospital

Birmingham Children’s Hospital – Thursday, 1st November, 2018 – 9.00am to 5.30pm

Book places for the UK-EGG 2018 Meeting
via our  Eventbrite page: REGISTER NOW

Book Now – UK-EGG 2018 Meeting

prof_robert_maclaren_lecturing.jpg

Birmingham Children’s Hospital – Thursday, 1st November, 2018 – 9.00am to 5.30pm

Book places for the UK-EGG 2018 Meeting via our Eventbrite page: BOOK NOW

 

The UK EYE Genetics Group (UK-EGG) 2018 Meeting

Birmingham_Childrens_Hospital

Birmingham Children’s Hospital – Thursday, 1st November, 2018 – 9.00am to 5.30pm

Members can now submit Abstracts and Posters for Presentation:

Download Links UK-EGG Birmingham 2018 Leaflet   Abstract Submission Form

2018 Meeting – Keynote Speaker Announced…

Prof Robert MacLaren

Confirmed Keynote speaker is Professor Robert McClaren

SAVE THE DATE…

We are delighted to announce that the 2018 meeting will be held at Birmingham Children’s Hospital. Check out our ‘Breaking News‘ page for more details.

12th Annual Meeting of UK-EGG

Meeting Report by Georgina Hall, Outgoing Chair UK-EGG

HD Screencasts Available NOW

HD Screencasts from our recent highly-successful Joint UK-EGG and ISGEDR Meeting are available NOW.

To give you a flavour of the meeting, here is our Montage Video:

Access to the screencasts is on a Members Only password-protected page:

ukegg.com/joint-uk-eggisgedr-screencasts/

To view the screencasts you will need a password, which should have been sent to you recently. Contact either of the following: Susan Downes susan.downes@ouh.nhs.uk Catherine Willis catherine.willis@uhs.nhs.uk or Stuart Ingram stuart.ingram@cmft.nhs.uk if you haven’t received your password.

UK-EGG

16 years of support for ophthalmic clinicians and clinical geneticists