Activities for Rare Disease Day 2020 – get involved!


Rare Disease Day Webinar: 29 January 2020

Find out about how you can get involved with Rare Disease Day by joining Rare Disease UK’s webinar on Wednesday 29 January from 13:00 to 14:00. We will discuss how you can access materials (posters, infographics and much more) to raise  awareness of rare conditions. Please contact Jurrat to sign up.

 

Rare Disease Day: Share Your Story

To celebrate Rare Disease Day, Rare Disease UK would like to showcase the diversity of the rare disease community and the variety of experiences people have.

Blogs
Rare Disease UK is accepting proposals for patient experience blogs from anyone affected by a rare, undiagnosed or genetic condition, to help patients spread awareness of their condition and share their story. If you would like to contribute, please contact Rosie.

Media opportunity
We will be looking to secure press coverage for Rare Disease Day, in particular bringing to light the value of alert cards when accessing care from doctors who are unfamiliar with rare diseases. If you have experience of using an alert card, or have received poor care and treatment (where an alert card could have been valuable) please contact Simon to share your story.

 

Rare Reality Facebook Group

Rare Disease UK is delighted to announce, as part of the Rare Disease Day celebrations, that it will be setting up two new private Facebook groups − one for patients affected by rare conditions and one for parent carers of people affected by rare conditions. The groups will provide a space for the rare community across the UK to come together to share peer support, information and find others affected by the same condition. You’ll also be able to keep up to date with the work of Rare Disease UK and Genetic Alliance UK and find out more about how to help make Rare Disease Day the UK’s biggest awareness day so that no rare condition, no matter how rare, ever gets left behind.

The groups will be launching at the beginning of February, if you would like to register your interest or for more information please email rarereality@raredisease.org.uk.

Involvement opportunity: Improving Mental Health Support for Children with Rare Genetic Conditions


Cerebra, a charity who support children with brain conditions and their families, have collaborated with Cardiff University to improve mental health support for children with rare genetic conditions which often cause developmental and intellectual delay.

Research shows that children diagnosed with these genetic conditions are more vulnerable to psychiatric problems, however they often do not receive appropriate mental health support.

The project team have collected data which highlight the current challenges families and service providers experience when trying to access and provide mental health support. They would now like to form a project advisory group to help guide the future direction and activities of the project and devise new strategies that we can trial to help tackle these challenges.

Who can join?

We would like the group to include:

– parents/carers of a child with a developmental genetic condition

– young adults who are over the age of 18 diagnosed with a developmental genetic condition

– health professionals including psychologists, psychiatrists, genetic counsellors, paediatricians and GPs

– health commissioners

– rare disorder charity groups

– educationalists

How often and where will the group meet?

The team will arrange for the meetings to take place at the most mutually convenient location for all members of the group. Should you not be able to attend in person, there may be the opportunity to teleconference into the meeting. The group would meet 2-3 times a year at key stages to discuss the progress of the project and have key input in its direction by making recommendations as to how the research team should proceed to deliver the project aim. The project will run until January 2022.

Is anything offered to members for taking part?

Cardiff University will cover reasonable travel expenses for attendance at meetings, in line with Cardiff University guidelines. Members of the public will be offered £15 per hour for each group meeting they attend (people can request less if they are in receipt of state benefits).

How do I express my interest?

If you would like to hear more information about this opportunity, please email or call Lowri O’Donovan. Lowri is the Research Assistant working on this project.

Email: odonovanl@cardiff.ac.uk / lowrio@cerebra.org

Telephone: 02920 688406

Second Meeting of National Assembly for Wales Cross Party Group for Rare, Genetic and Undiagnosed Conditions


Members of the Cross Party Group (CPG) for Rare, Genetic and Undiagnosed Conditions met for the second time in the National Assembly for Wales on January 14th to discuss the report recently launched by Genetic Alliance UK, ‘Action for Access’. The meeting was attended by representatives from the rare disease community including member organisations, the Cystic Fibrosis Trust and the National Society for Phenylketonuria (PKU), and presentations included case studies from the report about difficulties accessing medicines for those patient communities.

Nick Meade (Director of Policy Genetic Alliance UK) speaking on the Action for Access campaign

Angela Burns AM, Chair of the CPG was keen to take forward the issue of raising awareness of PKU and access to Kuvan on behalf of the patient community and will request a short debate in the Assembly to highlight these experiences. Genetic Alliance UK, the Secretariat, will meet with the Chair to further discuss recommendations in the report and how these can be taken forward.

Cross Party Group attendees

Plans for CPG meetings in 2020/2021 are currently in development but the next engagement session in the Senedd will be for Rare Disease Day 2020 so please do come along to the parliamentary reception on 25th February to hear more about what the CPG has achieved since it was established in October and plans going forward. Register for the Rare Disease Day 2020 Senedd Reception via Eventbrite

Please get in touch with Policy & Engagement Manager (Wales), Emma Hughes for more information about the Cross Party Group in Wales – emma@geneticalliance.org.uk

Register now: Rare Disease in Wales – Senedd Reception 25th February 2020


Join Genetic Alliance UK and stakeholders from across the rare disease community for Rare Disease Day 2020! Rare Disease Day is officially held on the last day of February, aiming to raise awareness of rare diseases and improve access to care, treatment, information and support. Throughout February and March, we host our three annual receptions to mark Rare Disease Day in Wales, England and Scotland. This year the Welsh reception, sponsored by Angela Burns AM, will be held on Tuesday 25th February, 6-8pm at the Senedd, Cardiff Bay and registration is now open via Eventbrite

The event will include an update from the Chair of the Rare Disease Implementation Group, Dr Graham Shortland, progress made, plans for 2020 involving the Cross Party Group for Rare, Genetic and Undiagnosed Conditions, as well as personal insights from a patient affected by a rare pituitary condition.

Canapés and light refreshments will be provided. Please share the invitation with others who may have an interest in attending. Please invite your Assembly Member to join you at the Welsh reception to hear from inspirational speakers and to discuss issues affecting your community. 

For more information, you can also contact the  Genetic Alliance UK Policy & Engagement Manager (Wales), Emma Hughes – emma@geneticalliance.org.uk.

If you would like to find out more about ongoing activities, you can sign up to join the Rare Disease Patient Network by emailing: walesgenepark@cardiff.ac.uk

 

Public Genomics Cafes: Cardiff – book now


Mon 2 Dec 2019 11am to 1pm (drop-in), Coffee #1, The Friary (off Queen Street, Cardiff CF10 2PB

Are you affected by a rare or genetic condition? Are you interested in finding out more about genomics and health? Join us for the Genomics Café in Wales! This initiative is being run by Wales Gene Park and Genetic Alliance UK and funded by Genomics Partnership Wales.

The Café will be a relaxed, informal opportunity to meet with 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. In addition to networking opportunities, the Café will host guest speakers, highlight new initiatives and provide attendees with the chance to shape our activities in this area.

This event is FREE to attend but please register via Eventbrite (you can also just come along on the day).

Cardiff Café: https://tinyurl.com/yxvg3rkk

 

 

Rare Film Festival 2020 – Get Involved!


Rare Disease UK is holding the UK’s first ever ‘Rare Film Festival’ on 10 February 2020, and are inviting all patient organisations to submit their own films.

To take part in the festival, Rare Disease UK is accepting the following film entries:

  • A pre-existing film produced within the last two years (this can be produced in-house, or co-produced with an external agency or company)
  • A new film
  • Apply to be matched with an aspiring filmmaker, who will produce the video for you (apply on the Rare Disease UK website by 25 October)

Entrants can submit their films to be considered for up to eight different award categories. The deadline for film submissions is on 5 January 2020. The competition winners will be selected by a panel of judges and their films will be screened at a high profile event at Regent Street Cinema in central London. The event will be attended by all major rare disease stakeholders including clinicians, researchers, healthcare professionals, pharmaceutical companies and all other major Rare Disease UK supporters. There will also be a screening of the winning films in Wales during February – watch the space for further details! 

To find out more information on the rare film festival, please visit the Rare Disease UK website, or email Parisa at parisa.rahim@geneticalliance.org.uk

Public Lecture 14th November – Unravelling the Double Helix: the lost heroes of DNA


Thursday 14 November, 7pm, Large Chemistry Lecture Theatre, Main University Building, Park Place, Cardiff CF10 3AT

Join us for ‘Unravelling the Double Helix: The Lost Heroes of DNA’ – a public talk from Professor Gareth Williams, University of Bristol. ALL WELCOME – NO BOOKING REQUIRED.

DNA. The double helix; the blueprint of life; and, during the early 1950s, a baffling enigma that could win a Nobel Prize. Everyone knows that James Watson and Francis Crick discovered the double helix. In fact, they clicked into place the last piece of a huge jigsaw puzzle that other researchers had assembled over decades. Researchers like Maurice Wilkins (the ‘Third Man of DNA’) and Rosalind Franklin, famously demonised by Watson. Not forgetting the ‘lost heroes’ who fought to prove that DNA is the stuff of genes, only to be airbrushed out of history.

This lecture – based on Professor Williams’ recent book of the same name – sets the record straight. He tells the story of DNA in the round, from its discovery in pus-soaked bandages in 1868 to the aftermath of Watson’s best-seller The Double Helix a century later.

Professor Williams will have copies of his book available to purchase on the night. 

About Professor Gareth Williams: Gareth Williams is Emeritus Professor and former Dean of Medicine at the University of Bristol. His previous books for general readers are Angel of Death: The Story of Smallpox (shortlisted for the Wellcome Book Prize of 2010), Paralysed with Fear: The Story of Polio and A Monstrous Commotion: The Mysteries of Loch Ness. He is a past president of the Anglo-French Medical Society and has an honorary doctorate from the University of Angers. He is often to be found playing the flute or saxophone in and around Bristol.

This event is being held as part of the Cardiff University School of Medicine’s Science in Health Public Lecture Series 2019-20.

 

Public Genomics Cafes: Newport and Swansea – book now


4 Nov 2019, 11am-1pm (drop-in), The Riverfront, Kingsway, Newport NP20 1HG
7 Nov 2019, 11am-1pm (drop-in), Zinco Lounge, 30 Princess Way, Swansea SA1 5HE

Are you affected by a rare or genetic condition? Are you interested in finding out more about genomics and health? Join us for the Genomics Café in Wales! This initiative is being run by Wales Gene Park and Genetic Alliance UK and funded by Genomics Partnership Wales.

The Café will be a relaxed, informal opportunity to meet with 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. In addition to networking opportunities, the Café will host guest speakers, highlight new initiatives and provide attendees with the chance to shape our activities in this area.

This event is FREE to attend but please register via Eventbrite (you can also just come along on the day).

Register for the Newport Cafe here: https://tinyurl.com/y5wnqe4t

Register for the Swansea Cafe here: https://tinyurl.com/y5bvenxh

The first coffee is on us!

Further information: email walesgenepark@cardiff.ac.uk or emma@geneticalliance.org.uk or phone 02920 746940

The Genomics Café will be held in a range of locations around Wales. If you are interested in having a café near you please get in touch!

3G Public Genetics and Genomics Conference, North Wales – book now


Genetics and Genomics for the 3rd Generation (3G) conference – A public event about DNA, genetics and genomics

Wednesday 13th November 2019, 10am – 3pm, Catrin Finch Centre, Wrexham LL11 2HS

Like to find out more about the fascinating field of DNA, genetics and genomics and discover how it affects our everyday lives? Join us for the 4th annual Wales Gene Park 3G conference!

Hear expert talks on a range of DNA and genetics-related topics including:

  • “How drinking tea and eating chocolate can affect our genes”
  • “Analysing medieval skeletons – how much they can tell us”

And more…….

Join us all day or drop in for some the talks (talks are 25 mins. with time for questions with our expert speakers). The event is aimed at members of the public over 50, but everyone is welcome. Lunch and refreshments provided! 

Attendance FREE!

Registration is required via Eventbrite: https://tinyurl.com/y2ka3gqo  

Further information: email walesgenepark@cardiff.ac.uk or phone 02920 746940

Wales Gene Park Annual Report 2018 – 2019


The Wales Gene Park Annual Report 2018 – 2019 is now available here

The report shows how Wales Gene Park has evolved and adapted to make the very most in Wales of the opportunities presented by genomics. A major part of what the Wales Gene Park does is to make genomic technologies available to biomedical researchers in Wales. We also create a seamless interface with the NHS, accelerating the appropriate development of new services in genomic medicine for patients. We involve patients and the public in the planning and execution of research and in service and policy development through an extensive programme of engagement. We promote understanding of the opportunities and challenges raised by genomics among health professionals, schools and colleges and the public through a wide portfolio of education activities. We are receptive to ideas, questions and comments. To get in touch please email: walesgenepark@Cardiff.ac.uk

Mae’r fersiwn Gymraeg yr adroddiad blynyddol ar gael yma/The Welsh version of the annual report can be found here