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

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