UK-EGG

“A place to share knowledge on inherited eye disease and train the next generation of clinicians and scientists.”

Breaking News

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/

Countdown to Webinar 3

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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.

New Team Members


Welcome Neeru and Chloe…

Dear Colleagues,

The UK-EGG Executive Committee are pleased to welcome Neeru Vallabh and Chloe Stanton to the Committee as co-directors of seminars for UK-EGG.

Neeru and Chloe will work together to organise online seminars for the UK-EGG community over the next year.

More information to follow.

Updated Genomic Testing Prioritisation

Updated Genomic Testing Prioritisation

Effective Saturday 1st August 2020

Dear Colleagues,

Following the response to the COVID-19 pandemic, NHS England has issued new guidance to genomic laboratories on the prioritisation of work.

From 1st August 2020, all urgent and routine genomic services are returning to business as usual.

Laboratories will continue to process any locally stored samples (non-urgent samples received during the pandemic) and will accept samples from all Genomic Laboratory Hubs for testing.

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

NEW ‘Case Studies’ added to Education Section

Check out the UK-EGG Case Studies section here.

Summer 2020 UK-EGG Newsletter

Check out the Summer 2020 UK-EGG Newsletter here.

Save the Date – Annual Meeting on Monday, 21st June, 2021

2021 Annual Meeting – Venue and Date for your Diary

Dear Colleagues, 

Our annual conference was due to be held on Tuesday, 24th November, 2020, but due to concerns about ongoing social distancing and restrictions on large group meetings, we have taken the difficult decision to  postpone our face to face meeting to Monday, 21st June, 2021. This will be held in the main auditorium of The Francis Crick Institute, London, with access to their gallery space, so there will be plenty of room to spread out and/or invite more guests.

To mark the November meeting we will be hosting a webinar and more details will follow!

UK-EGG Executive Committee:  Mariya Moosajee, Denize Atan and Gabrielle Wheway

Twitter and ListServ coming to UK-EGG

We are pleased to announce two new initiatives to the UK Eye Genetics Group.

Firstly, we would like to continue discussion between clinicians, geneticists and scientists in the UK-EGG membership around cases, new research or health service provision updates in the COVID era. We have set up a new UK-EGG ListServ: UKEyeGeneticsGroup@jisc.ac.uk.  Details about how to sign up and listserv etiquette to follow shortly in our newsletter.

Secondly, to facilitate wider dissemination of research and clinical updates in eye genetics, we have set up a UK-EGG Twitter account.  Please follow @UKEyeGenetics

UK-EGG Executive Committee:  Denize Atan, Mariya Moosajee and Gabrielle Wheway

UK-EGG Membership now available ONLINE


UK-EGG Membership

Becoming a member of UK-EGG ensures you will be kept updated with genetic ophthalmology research currently on-going in the UK.

Membership attracts a one-off joining fee of £25.00, with no further payment for continued membership. Being a member of UK-EGG also means you can attend our yearly Conference for a reduced fee.

Membership can now be purchased online via this LINK

UK-EGG

16 years of support for ophthalmic clinicians and clinical geneticists