UK-EGG
“A place to share knowledge on inherited eye disease and train the next generation of clinicians and scientists.”
Breaking News
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.
2020 Annual Meeting – Venue and Date for your Diary
2020 Annual Meeting – Venue and Date for your Diary
Date and venue has been finalised for the UK-EGG 2020 Meeting – Tuesday, 24th November, 2020 at Francis Crick Institute, London
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
Therapeutic Advances in Rare Disease
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
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.!
UK-EGG
16 years of support for ophthalmic clinicians and clinical geneticists