UK’s Rare Diseases Framework published


Genetic Alliance UK welcomes the publication of the UK’s Rare Diseases Framework and looks forward to working with the four nations of the UK to help deliver its aims.

This is once again an almost unique piece of health policy in that it represents a commitment from the UK’s four health ministers to deliver a shared aim for people living with rare conditions.

You can read Genetic Alliance UK’s thoughts on the new framework here.

Genetic Alliance UK is also delighted to have Lord Bethall of Romford’s commentary on the framework on their website.

For more information please email Emma: emma@geneticalliance.org.uk.

 

 

Public talk: V for Vaccination – from Cowpox to Covid, 28th & 29th Jan. 2021 **EXTRA DATE ADDED**


Join Wales Gene Park for a free public talk on the social history of vaccination and discussion session on what it means now for Covid. All  welcome!

The talk on 28th Jan is now fully booked however a repeat session will be held on 29th Jan at 11am.

Book a place on the 29th Jan talk here

Please could we kindly ask that if you have already reserved a place for the same talk on the 28th you do not book another place on the 29th as we have a long waiting list of people who’d like to attend. Thank you very much for your consideration.

For further information please email: walesgenepark@cardiff.ac.uk

 

Virtual Public Genomics Café: 14th January 2012, 11am-12.45pm


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 first café of 2021 will provide the opportunity to ‘Meet the Professional’ working in genetics and genomics, with relaxed talks from experts including:

  • A researcher from Swansea University working on rare, genetic conditions
  • A Genetic Counsellor from the All Wales Medical Genomics Service
  • A Biomedical Scientist at Public Health Wales’ Pathogen Genomics Unit

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://tinyurl.com/y4tnss62

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

Further information: email walesgenepark@cardiff.ac.uk

Familial Paraganglioma Syndromes All Wales Multidisciplinary Virtual Study Day: 28th Jan. 2021


Familial paraganglioma syndromes are complex disorders and more common than previously thought. Our understanding of these disorders has grown significantly over the last 20 years; however, diagnosis, treatment and management can still be challenging, both for the patients and their health care professionals.

The morning will include talks from experts around the UK to cover an overview of the SDHx conditions, their diagnosis and screening. In the afternoon, the focus will be on the Welsh experience, including some facilitated workshops to bring together interested health professionals and patients from across Wales to learn, share experiences and explore how the service provision for this group of patients could be improved.

The event will be open to MDT members and trainees who would like to learn more about familial paraganglioma syndromes, such as endocrinologists, endocrine and head and neck surgeons, paediatric endocrinologists, radiologists, speech and language therapists, genetic counsellors and clinical geneticists, to name only a few.

FREE to attend but registration is essential as places may be limited. Please register via Eventbrite: https://tinyurl.com/y62wt3o8

Further information and the programme will be sent out in due course.

 

 

Rapid NGS Diagnostic Workshop: 4th & 5th Feb 2021 (9.30am to 12.30pm, both days)


The role of Next Generation Sequencing (NGS) in clinical diagnostics of patients with rare genetic diseases over the past decade has been transformative. Almost all genetic diagnoses are now made using a form of NGS, be that a gene panel, an exome (all coding genes) or the whole genome. This has led to research into novel ways to exploit this technology to improve the rate of diagnoses and to improve patient benefit. One area where this research is proving to be highly beneficial is the rapid diagnosis of acutely ill children in Intensive Care Units (ICU). In the UK this work was pioneered by Dr Hywel Williams working with clinical teams from Great Ormond Street Hospital. Currently, the All Wales Medical Genomics Service (AWMGS) is the only NHS authority offering rapid whole genome NGS to sick children as part of their WINGS study.

This conference will bring together experts in rapid NGS from all areas of the UK and Ireland to share their experiences of setting up such a clinical service and to build best practices to allow national standards to be applied. We will also be joined by Professor Zornitza Stark who will present work on the Australian Genomics Health Alliance. The conference will run over two mornings and cover topics related to rapid NGS diagnostics including the experiences of the AWMGS team running the WINGS study, the ethics of such studies, the bioinformatic challenges and future advancements such as Non-Invasive Prenatal Testing and incorporation of transcriptomics. The event will be free to attend and anyone interested in this cutting-edge application of NGS is strongly encouraged to attend.

Programme themes: 

  • Rapid neonatal whole exome sequencing
  • Prenatal exome analysis
  • Ethical considerations of rapid diagnostic testing
  • Bioinformatic challenges

This will be a virtual event. To register for a place use Eventbrite link: https://tinyurl.com/y5cs99oy

For further information please contact: walesgenepark@cardiff.ac.uk

Virtual Rare Disease Patient Network meeting: 10th December 2020, 10am-2.30pm


Join Wales Gene Park for its sixth annual Rare Disease Patient Network meeting – this year’s event will take place exclusively online via Zoom. 

We look forward to welcoming you to our 6th annual meeting, bringing members of the Rare Disease Patient Network* together.

Genetic Alliance UK will be launching it’s Quinquennial Patient Experience Report, bringing together the experiences of over 1000 members of our community affected by rare and genetic conditions.

Other invited speakers will discuss how genomics is changing healthcare and share experiences of living with a rare disease during COVID 19.

We will also be joined by Phenotypica and Dr Samuel Chawner who will be hosting an online workshop focused on highlighting the experiences of individuals with genetic conditions through creative engagement.

This virtual event is FREE for anyone within the rare disease community; patients, families, researchers, health professionals and we welcome non-network members to come along to find out more.

Book via Eventbrite: https://tinyurl.com/yyeuz7f3 

Once registered, Zoom details for joining the event will be emailed out to all attendees prior to 10 December along with the full programme. There will also be a lunch break after the morning presentations and ahead of the workshop in the afternoon.

If you have any questions about the event, please contact, Emma Hughes: emma@geneticalliance.org.uk

*Please note you do not have to be a member of the network to attend this event, but you are very welcome to join.

Virtual Public Talk: 7pm, Thursday 12th Nov 2020


We came, we saw, we took samples back to Earth!

Join us for a FREE virtual public talk from John Holt, Space Research Centre, University of Leicester.

Talk synopsis:

NASA have been talking about Mars Sample Return (MSR) since the 70’s, but now it is happening for real!

The Perseverance rover is the first stage in MSR and it’s on the way right now; hopefully landing on the 18th Feb 2021. But, Mars may once have supported life and potentially still does, so bringing extra-terrestrial samples back to Earth presents a contamination challenge.

At the University of Leicester, we have been addressing the issues of safe containment by adopting different technologies from sectors like genetics, bio-tech and medicine. Our solution is called the Double Walled Isolator (DWI) and in this session I will talk about what is new, the science behind safe handling of a potential pathogen and how such technology might be spun back to industry.

This public talk is part of Cardiff University School of Medicine’s Science in Health Public Lecture Series 2020-2021. Other talks include Mental Health and the COVID-19 pandemic and Social justice, health equity and COVID-19. The full programme of lectures can be found here.

 

The highly successful series is now in its eighteenth year and attracts a diverse audience of interested individuals including the public, secondary school pupils and professionals. The lectures are FREE to access. This year the lectures will take place live via Zoom.

Book a place for John Holt’s talk here

COVID-19 update from Wales Gene Park: December 2020


As lockdown restrictions eased in Wales over the summer, we were pleased to re-open our laboratories and resume practical work. Both the Genomic Sequencing lab, based in the Division of Cancer and Genetics, School of Medicine, and the Genome Editing lab, based in the School of Biosciences, in Cardiff University are open for business. Things are not quite as they were pre-lockdown, with staff having to work in “bubbles” and shift patterns implemented to keep operations going as best as possible while keeping staff safe.

Two new members of staff started work during the lockdown period. Loys Richards has taken up the role of Research Coordinator and Sam Hill joined the Bioinformatics team. Since lockdown, Iain Perry has also joined Wales Gene Park, taking the bioinformatics team up to its full compliment. Although the lab teams are back on site, others are continuing to work remotely in accordance with Welsh Government advice. As such, the Bioinformatics and Education and Engagement teams continue to undertake their roles from home.

All face-to-face Education and Engagement activities have been cancelled until the end of the year, but the team continues to deliver events through virtual platforms. Please check our website for notice of upcoming events. Additionally, you can follow us on Twitter for information and updates.

If you have any enquiries about Wales Gene Park activities, please email WalesGenePark@Cardiff.ac.uk

Regular updates on the research situation in Wales are available via our funders Health and Care Research Wales

Wales Gene Park continues to work hard to enable and promote genetic and genomic research in Wales. Our doors are always open to you.

All the best,

Andrew Fry, Karen Reed and Angela Burgess

Director and Co-Directors, Wales Gene Park

 

Virtual Genetics & Genomics for the 3rd Generation (3G) conference: 26 Nov, 10.15am-2.30pm


Join us via Zoom for a public event about DNA, genetics & genomics

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 5th annual Wales Gene Park 3G conference, which this year will be virtual for the first time! Hear expert talks on topics including:

  • An Introduction to Genomics and Rapid Genome Sequencing for sick Children
  • Dr Edward Jenner and the Story of Smallpox
  • Ethical Dilemmas in Clinical Genetics & Genomics
  • The Yellow Card Scheme for Medicines in Wales

And more……

Join us all day or drop in for some talks (talks are 25 mins. with time for questions with our expert speakers) – there will be a short break between each talk. The event is aimed at members of the public over 50, but everyone is welcome.

Attendance FREE. Registration required via Eventbrite: https://tinyurl.com/y2h8qzgh

Further information email walesgenepark@cardiff.ac.uk

 

Virtual Public Genomics Café: Nov 19th, 11am


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. November’s café will feature relaxed talks from guest speakers on:

  • An Introduction to Genomics & Health
  • Surviving Shielding During Covid: experiences from the Rare Disease Community
  • An overview of the Cross-Party Group for Rare, Genetic & Undiagnosed Conditions
  • The National Genomics Estates Strategy in Wales for Genomics Partnership Wales & the Precision Medicine Initiative

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 Cafe: https://tinyurl.com/y3bx464c

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

Further information: email walesgenepark@cardiff.ac.uk