Save the Date: 30th June, 12pm-1.20pm, Virtual Parliamentary Briefing on Rare, Genetic & Undiagnosed Conditions


Sponsored by Mark Isherwood MS

Join Genetic Alliance UK and supporters to learn more about the work of the Cross Party Group on Rare, Genetic & Undiagnosed Conditions and how the new UK Framework for Rare Diseases aims to improve the lives of those affected by rare conditions.

Speakers will include patients and families affected by rare conditions and clinicians sharing their perspective on how the Framework can make an impact in Wales. The session will cover:

  • diagnosis of rare conditions and how genomics is transforming healthcare
  • education of health professionals and coordination of care
  • access to specialist care, treatment and drugs

Please email Emma Hughes: emma@geneticalliance.org.uk to express an interest in attending the briefing session and to receive joining instructions.

 

Briff Seneddol Rhithwir ar Amodau Prin, Genetig a Heb Ddiagnosis

Nodwch y Dyddiad! Dydd Mercher 30 Mehefin, 12pm – 1.20pm 

Noddir gan Mark Isherwood MS

Ymunwch â Genetic Alliance UK a chefnogwyr i ddysgu mwy am waith y Grŵp Trawsbleidiol ar Gyflyrau Prin, Genetig a Heb Ddiagnosis a sut mae Fframwaith newydd y DU ar gyfer Clefydau Prin yn anelu at wella bywydau etholwyr y mae’r cyflyrau hyn yn effeithio arnynt.

Bydd y siaradwyr yn cynnwys clinigwyr a chleifion a theuluoedd y mae cyflyrau prin yn effeithio arnynt yn rhannu eu persbectif ar sut y gall y Fframwaith gael effaith yng Nghymru. Bydd y sesiwn yn ymdrin â:

  • diagnosis o gyflyrau prin a sut mae genomeg yn trawsnewid gofal iechyd
  • gweithwyr proffesiynol iechyd a chydlynu gofal
  • i ofal arbenigol, triniaeth a chyffuriau.

Ebostiwch Emma Hughes: emma@geneticalliance.org.uk i fynegi diddordeb mewn mynychu’r sesiwn friffio a derbyn cyfarwyddiadau ymuno.

Virtual Public Genomics Café 15th June: haematology – hereditary anaemias & iron overload


Are you affected by a rare or genetic condition? Are you a member of the public interested in finding out more about genomics and health? Join us for a Virtual Genomics Café! This initiative is being run by Wales Gene Park in collaboration with Genomics Partnership Wales. This specialist café – organised with Friends of Cymru Sickle Cell & Thalassaemiawill focus on haematology; specifically hereditary anaemias and iron overload. It will feature relaxed talks including:

  • Funding and expansion of the service in Wales for Hereditary Anaemias: Dr Sian Lewis
  • The Clinical Nurse Specialist role & services provided for hereditary anaemias and iron overload: Annette Blackmore
  • Blood Transfusion for Hereditary Anaemias (the need, problems encountered and developments): Dr Keith Wilson
  • Introduction to Friends of Cymru Sickle Cell & Thalassaemia: Faith Walker

The Haematology Café will be an informal opportunity to meet others, hear talks from experts and ask questions. It will also be a chance for people to come together and be supported by others in their communities.  The café is FREE, but you will need to register via Eventbrite to receive the Zoom joining link and instructions.

Register for Haematology Café: https://rb.gy/7w4j8j

For further information email walesgenepark@cardiff.ac.uk

Genomics Showcase 14th May 2021 – register now!


What is the Genomics Showcase?

Wales Gene Park is organising a new and exciting Genomics Showcase in collaboration with Genomics Partnership Wales.  The Showcase was due to take place in Cardiff City Hall, however, the pandemic has forced a move to a virtual platform for delivery, so now you can join in from the comfort of your own home!

The event will showcase genomics and its potential to improve healthcare for the people of Wales. The event will be live from 10.00am until 7.00pm.  You can join and leave as many times as you like during the day or stay logged-on for the duration!

Content will include:

Main Foyer

This will be an arrival area for all participants.  There will be notice boards and signs to the various elements on offer.  To assist participants to gain the most from the event, there will also be an interactive Information Zone with latest info about proceedings and ‘what’s coming up’ notices.  Enquiries about various aspects of the event will be dealt with at a Help Desk.

Public Zone

  • A series of talks throughout the day
  • A Genomics Café
  • A Twilight Discussion
  • An exhibition area with stands from various patient groups, charities etc
  • A ‘Short Clips’ area – short films/animations on various genetics/genomics topics shown throughout the day
  • Talks from key stakeholders and various other organisations

Interactive Zone

  • An interactive games room with quizzes, puzzles and more
  • Genomics Treasure Hunt
  • DNA Extraction

School Zone

This will be accessible to all but focussed towards students

  • University stands
  • Genomics careers information

Health Professionals & Researchers Zone

The zone will include:

  • Four/five simultaneous events consisting of presentations and talks
  • A Poster Hall where academic posters will be displayed and can be visited at any time.  There will also be the opportunity for the best posters to be presented as talks.
  • An Exhibition Area where companies will have virtual stands, accessible all day

There is something for everyone at this event, so please pass the information on to family, friends & colleagues!

Register for the Genomics Showcase here

If you would like any further information, please contact walesgenepark@cardiff.ac.uk

Virtual Public Genomics Café (as part of Genomics Showcase) 14th May – register now!


Friday 14th May 2021, 12 – 2pm

Are you affected by a rare or genetic condition? Are you a member of the public interested in finding out more about genomics and health? Join us for a Virtual Genomics Café! This initiative is being run by Wales Gene Park in collaboration with Genomics Partnership Wales. The special café is being held as part of the first ever Genomics Showcase in Wales and will feature relaxed talks from speakers including:

  • Covid-19 a year on: Professor Keir Lewis, Hywel Dda University Health Board
  • Experiences of a Rare Disease Parent Advocate: Marie James
  • The Role of Rare Copy Number Variants in psychiatric disorders: Dr Kim Kendall, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University
  • Getting involved in Genomics in Wales: Patient & Public Sounding Board Members, Genomics Partnership Wales
  • Opportunity for discussion and networking

The Café is free to join and will be an informal opportunity to meet others and find out about new advances in the area of genomic medicine in Wales. It will also be a chance for people to come together, and let us know how we can better support those affected by rare or genetic conditions.  As the café is part of the Genomics Showcase, you will need to register for the via the specific link below. This will give you access to the entire Showcase (including talks, stands, activities, films and more) including the café.  

Register for the Café: https://genomicsshowcase2021.vfairs.com/en/

Don’t forget to bring your cuppa and a snack to enjoy during the café!

Further information: email walesgenepark@cardiff.ac.uk

Young People’s Genomics Café, Weds. 26th May 2021, 6pm – register now!


Are you a young person interested in finding out more about genomics and health, or affected by a rare or genetic condition? Join us for Young People’s Genomics Café! These events are aimed at those aged 16 to 25 and are run by Wales Gene Park with Genomics Partnership Wales. May’s café will provide the opportunity to ‘Meet the Professional’ working in the area of genetics and genomics, with relaxed, expert talks including:

  • Meet the Researcher working on rare, genetic conditions – Dr Laura Thomas, Swansea University
  • Meet the Biomedical Scientist – Bree Gatica-Wilcox, Pathogen Genomics Unit, Public Health Wales
  • Meet the Genetic Counsellor – Louise Gillies, & Gabriela Juma, All Wales Medical Genomics Service
  • Meet the Doctor specialising in Genetics/Genomics – Dr Ollie Murch, All Wales Medical Genomics Service

The café is a relaxed opportunity to find out about new advances in genomic medicine in Wales and a chance for young people to meet, come together, and let us know how we can better support those affected by rare or genetic conditions.  The cafe is FREE to join via Zoom, but you will need to register via Eventbrite to receive the joining link.

 Register here: https://rb.gy/f8vzup

 Further information email walesgenepark@cardiff.ac.uk  

 

 

Genomics Showcase, 14th May 2021 – opportunity for involvement


Virtual Event – 14th May

Opportunity for involvement!

Would you like to be involved in Genomic Partnership Wales’ biggest event of 2021? The Genomics Showcase will take place virtually on 14th May 2021 and we want to offer your organisation the chance to be part of it.

What is the Genomics Showcase?

The Genomics Showcase is an event designed to showcase the field of genomics, and its potential to improve healthcare to the people of Wales. There will be something for everyone with events for the public, patients, schools, colleges, health professionals and researchers. Attendees will have the opportunity to attend talks from experts, take part in interactive activities that explore the world of genomics, view stands from exhibitors and participate in many more activities.

How can you be involved?

Although the event is online, we want to recreate the feel of an in-person event as much as possible. There will be virtual exhibition halls and organisations will be able to man a stand and communicate their work with attendees. You will be able to choose between the Public Exhibition Hall and the Professionals Exhibition Hall, which will be limited to health professionals and researchers.

As an exhibitor, you will be able to upload resources in the form of documents and videos that showcase your work. You can make the stand your own and customise the information and titles you want to include. One of the most useful aspects of an in-person event is networking with people who visit your stand. We want to mirror this at the showcase and, as attendees visit your organisation’s exhibition, you will be able to chat with them through the chat box or video call features.

There is no charge to take part in the event, but spaces are limited so if you are interested in having a stand get in touch at the email address below. Places will be allocated on a first come first served basis.

Throughout the day, we will be hosting talks from a wide range of speakers. There will be general genomics talks, sessions dedicated to specific areas such as diagnostics and treatments and disease specific talks. If you have a topic that you’d like to present, get in touch. We can discuss the subject you have in mind and whether it can be accommodated.

Do you have an idea for the Showcase that isn’t mentioned here? If so, we’d be pleased to hear from you so get in touch.

Going forward, the GPW Genomics Showcase will be an annual event and a highlight of the year. Don’t miss the opportunity to be part of the first one!

Want more information?

If you want to discuss this further or to reserve an exhibition space, please email WalesGenePark@cardiff.ac.uk. Please put “GPW Genomics Showcase 2021” in the subject box.

The GPW Genomics Showcase will be an annual event and a highlight of the year. Don’t miss the opportunity to be part of the first one ever!

 

SWAN UK Virtual Information Event/Digwyddiad Gwybodaeth Rhithwir: 21.04.21


SWAN UK Virtual Information Event 

  • Does your child have global development delay (GDD) or learning/physical difficulties that are unexplained?
  • Has your child had genetic tests and the results have come back negative or of unknown clinical significance?
  • Are you a professional that wants to find out more about SWAN UK and the work we do?

Come along to our information event and find out more about undiagnosed genetic conditions and hear first-hand from families who are affected by them.

Register for the event here.

Programme here.

Digwyddiad Gwybodaeth Rhithwir SWAN UK

  • A oes gan eich plentyn oedi datblygu byd-eang (GDD, Global Developmental Delay) neu anawsterau dysgu / corfforol sy’n anesboniadwy?
  • A yw’ch plentyn wedi cael profion genetig ac a yw’r canlyniadau wedi dod yn ôl yn negyddol neu o arwyddocâd clinigol anhysbys?
  • Ydych chi’n weithiwr proffesiynol sydd eisiau darganfod mwy am SWAN UK a’r gwaith rydyn ni’n ei wneud?

Dewch i’n digwyddiad gwybodaeth i ddarganfod mwy am gyflyrau genetig a heb ddiagnosis a chlywed yn uniongyrchol gan deuluoedd sy’n cael eu heffeithio ganddynt.

Cofrestrwch yma.

UK Rare Diseases Framework Westminster Hall Debate


UK Rare Diseases Framework Westminster Hall Debate took place on 24th March.

The Chair of the All Party Parliamentary Group on Rare, Genetic & Undiagnosed Conditions in Westminster, Liz Twist MP secured a debate on the UK Rare Diseases Framework. Members raised important points around expansion of newborn screening programmes, access to timely diagnoses and treatments for rare conditions, education of health professionals and collaboration between UK nations in developing Action Plans to implement the Framework.

The debate was oversubscribed by members. The full transcript and a video recording of the debate can be viewed here in text or on video.

In respect of Welsh representation, Christina Rees, MP for Neath spoke about the rare condition, phenylketonuria and access to the treatment Kuvan and Liz Saville Roberts, MP for Dwyfor Meirionnydd spoke more generally about Welsh implementation of the Framework and urged for publication of Action Plans in each nation during 2021.

For more information about rare disease policy work, please contact Emma Hughes: emma@geneticalliance.org.uk

SWAN UK CYMRU LAUNCH


Families in Wales affected by undiagnosed and rare conditions to be better supported thanks to a three year project funded by the National Lottery Community Fund in Wales.

About SWAN UK

SWAN stands for ‘syndromes without a name’. It is not a diagnosis, but a term used to describe a genetic condition so rare it is often impossible to diagnose.

SWAN UK (syndromes without a name) is a support network run by Genetic Alliance UK. It is the only dedicated support in the UK for families of children affected by a syndrome without a name. We enable families to make contact with others who understand the unique challenges of raising a child affected by an undiagnosed genetic condition, offer access to information and support through our online forums and our Local Networks, run regular free events to bring families together and provide opportunities to make precious memories.

Thanks to a three year National Lottery Community Fund in Wales grant, SWAN UK and Genetic Alliance UK are now able to develop their existing successful model of support across Wales.

ABOUT SWAN UK – CYMRU

It is currently estimated that each year in Wales around 300 children are born with a syndrome without a name. These children often have a mix of learning and physical disabilities and many have significant health needs.

Consultations with existing SWAN UK parents and families based in Wales in 2019 highlighted the desperate need for more specialised support for those who face the unique demands of raising a child without a diagnosis in Wales.

Some of the challenges raised by families included poor coordination of care, few opportunities to connect and meet with other families in a similar situation and how lack of  diagnosis means that there are no obvious parent/carer support groups to turn to for help.

As well as these issues, families in Wales often face the additional challenge of being dispersed across largely rural communities. The rurality of the Welsh landscape often makes travel to and from appointments expensive, lengthy and means that there are much fewer local specialist services available.

SWAN UK – CYMRU AIMS TO:

  • Identify and engage more Welsh families into the existing SWAN UK – Cymru peer support network so that they feel less isolated.
  • Deliver bilingual information, support, activities and events specifically tailored to the needs identified by Welsh families.
  • Network with local services and organisations to help educate local professionals on the needs and challenges faced by SWAN UK families in Wales and the vital importance of effective care coordination.
  • Develop and produce a bilingual early intervention toolkit – Rare Resources Wales – which will provide a wide range of general information on genetic, rare and undiagnosed conditions as well as advice on how to access reliable information, care and support in Wales.

‘I was so glad to find SWAN UK! Suddenly we no longer felt alone. I couldn’t believe how many other families were going through the same thing as us’ Tammy from Bargoed near Caerphilly.

For more information please email cymru@undiagnosed.org.uk

 

Rhoi cymorth gwell i deuluoedd yng Nghymru y mae cyflyrau heb ddiagnosis a phrin yn effeithio arnynt, gyda phrosiect tair blynedd wedi’i ariannu gan Gronfa Gymunedol y Loteri Genedlaethol yng Nghymru.

Gwybodaeth am SWAN UK

SWAN yw ‘syndromes without a name’. Nid diagnosis mohono, ond term a ddefnyddir i ddisgrifio cyflwr genetig sydd mor brin nad oes modd gwneud diagnosis ohono’n aml.

Rhwydwaith cymorth yw SWAN UK (syndromau heb enw) sydd yn cael ei redeg gan Genetic Alliance UK. Dyma’r unig gymorth yn y DU sydd yn arbennig ar gyfer teuluoedd plant sydd â syndrom heb enw. Rydym yn galluogi teuluoedd i ddod i gysylltiad ag eraill sydd yn deall heriau unigryw magu plentyn sydd â chyflwr genetig heb ddiagnosis. Mae ein fforymau ar-lein a’n Rhwydweithiau Lleol yn rhoi modd i gael gafael ar wybodaeth a chymorth, ac rydym yn cynnal digwyddiadau am ddim yn gyson i ddod â theuluoedd ynghyd a rhoi cyfleoedd i greu atgofion gwerthfawr.

Gyda grant Cronfa Gymunedol y Loteri Genedlaethol yng Nghymru, mae SWAN UK a Genetic Alliance UK bellach yn gallu datblygu eu model cymorth sydd eisoes yn llwyddiannus ar draws Cymru.

GWYBODAETH AM SWAN UK – CYMRU

Ar hyn o bryd, amcangyfrifir bod 300 o blant yn cael eu geni â syndrom heb enw yng Nghymru pob blwyddyn. Yn aml, bydd gan y plant hyn gymysgedd o anableddau dysgu a chorfforol a bydd gan lawer anghenion iechyd sylweddol.

Wrth ymgynghori â rhieni a theuluoedd SWAN UK yng Nghymru yn 2019, gwelwyd bod angen enbyd am fwy o gymorth arbenigol i’r rheiny sydd yn magu plentyn heb ddiagnosis dan amgylchiadau unigryw yng Nghymru.

Yn ogystal â’r problemau hyn, mae’r ffaith bod teuluoedd Cymru wedi’u gwasgaru ar hyd cymunedau gwledig gan mwyaf, yn ychwanegu at yr her. Mae natur wledig tirwedd Cymru yn golygu bod teithio yn ôl ac ymlaen rhwng apwyntiadau yn ddrud, yn cymryd cryn amser, ac yn golygu bod llai o wasanaethau arbenigol ar gael yn lleol.

BWRIAD SWAN UK – CYMRU YW:

  • Adnabod a denu rhagor o deuluoedd yng Nghymru at rwydwaith cymorth SWAN UK – Cymru fel nad ydynt yn teimlo mor unig.
  • Darparu gwybodaeth, cymorth, gweithgareddau a digwyddiadau yn ddwyieithog sydd yn arbennig i anghenion teuluoedd Cymru.
  • Rhwydweithio â gwasanaethau a sefydliadau lleol i helpu addysgu gweithwyr proffesiynol lleol am anghenion a’r heriau i deuluoedd SWAN UK yng Nghymru, a phwysigrwydd cydlynu gofal yn effeithiol.
  • Datblygu a chynhyrchu pecyn cymorth dwyieithog ar ymyrraeth gynnar – Adnoddau Prin Cymru – a fydd yn darparu ystod eang o wybodaeth ar sut i gael gwybodaeth, gofal a chymorth sydd yn ddibynadwy yng Nghymru.

‘Roeddwn i mor falch dod ar draws SWAN UK! Nid oeddem ni’n teimlo ar ein pen ein hunain wedyn. Doeddwn i methu credu faint o deuluoedd eraill oedd yn mynd drwy’r un peth â ni.’ Tammy o Fargoed ger Caerffili.

Am fwy o wybodaeth, anfonwch e-bost at cymru@undiagnosed.org.uk

 

Public Genomics Café: 29th March 2021 – book now!


Are you affected by a rare or genetic condition? Are you a member of the public interested in finding out more about genomics and health? Join us for a Virtual Genomics Café! This initiative is being run by Wales Gene Park in collaboration with Genomics Partnership Wales.

March’s café will feature relaxed talks from speakers including:

  • Eat to Fit Your Genes: Dr Maninder Ahluwalia (Cardiff Metropolitan University) discusses genetics & diet
  • The Rare Navigator Project & work of Same But Different: Dr Ali Kay (Same But Different)
  • Experiences of a Rare Disease Advocate: Alan Thomas (Ataxia and Me)

And more…..

The Virtual Café will be a relaxed, informal opportunity to meet others and find out about new advances in the area of genomic medicine in Wales. It will also be a chance for people to come together, be supported by others in their communities and let us know how we can better support those affected by rare or genetic conditions.  The café is FREE to join via Zoom, but you will need to register via Eventbrite to receive the joining link and instructions (you will also need to set up a free Zoom account).

Register for Virtual Café: https://rb.gy/j7lfhx

Don’t forget to bring your cuppa and a snack to enjoy during the café!

Further information: email walesgenepark@cardiff.ac.uk