Opportunity: Patient & Public Representative, Strategic Advisory Group, Wales Gene Park


Come and join the wider team and help guide the direction of Wales Gene Park as a patient and public representative on our Strategic Advisory Group. For more information about the role, reimbursement and how to apply – please take a look at the advert below:

Role Description

Patient & Public Representative, Strategic Advisory Group, Wales Gene Park

Wales Gene Park (WGP) is an infrastructure support group funded by Welsh Government through Health and Care Research Wales, hosted by Cardiff University. WGP is in its 17th year of consecutive funding from Welsh Government and forms an integral part of Genomics Partnership Wales, an initiative that is delivering the Welsh Government’s Genomics for Precision Medicine Strategy

WGP is recruiting a patient/public representative to join its Strategic Advisory Group. The appointee will attend quarterly meetings (planned to be virtual for the foreseeable future), actively and conscientiously participate in discussions and contribute to strategic developments of WGP, providing advice and reviewing progress against objectives. To fulfil this role, the appointee will need to keep up to date with issues affecting WGP such as developments in genomics in Wales.

Applications are welcome from individuals with a broad range of experiences:

  • direct or indirect experience (as an individual, family member or carer) of genetic testing and/or the process of informed consent for such testing
  • any interaction with the All Wales Medical Genomics Service
  • taken part in a precision or ‘personalised’ medicine trial, e.g. for cancer
  • direct or indirect experience (as an individual, family member or carer) of rare diseases such as Cystic Fibrosis, Huntington Disease, Tuberous Sclerosis
  • direct or indirect experience of living with/supporting children/adults with Developmental Delay disorders
  • are able to voice their opinions in a constructive manner
  • are able to listen to other perspectives and respect other viewpoints

The role will be reimbursed with an honorarium payment and travel expenses in line with Health and Care Research Wales guidance.

Please get in touch if you would like an informal chat about the role. Expressions of interest of no more than 500 words outlining your experience and motivations for applying for this role should be sent to Emma Hughes: emma@geneticalliance.org.uk by 1 March 2021.

Disgrifiad o’r Rôl

Cynrychiolydd Cleifion a’r Cyhoedd, Grŵp Cynghori Strategol, Mae Parc Geneteg Cymru

Mae Parc Geneteg Cymru yn grŵp cefnogi seilwaith wedi’i ariannu gan Lywodraeth Cymru drwy Ymchwil Iechyd a Gofal Cymru, a’i gynnal gan Brifysgol Caerdydd.Mae WGP yn ei 17eg flwyddyn o gyllid yn olynol gan Lywodraeth Cymru ac mae’n rhan annatod o Bartneriaeth Genomeg Cymru, menter sy’n cyflawni Strategaeth Genomeg ar gyfer Meddygaeth Fanwl Llywodraeth Cymru.

Mae WGP yn recriwtio cynrychiolydd cleifion / y cyhoedd i ymuno â Grŵp Cynghori Strategol WGP. Bydd y sawl a benodir yn mynychu cyfarfodydd chwarterol (y bwriedir iddynt fod yn rhithwir hyd y gellir rhagweld), cymryd rhan weithredol a chydwybodol mewn trafodaethau a chyfrannu at ddatblygiad strategol WGP, gan ddarparu cyngor ac adolygu cynnydd yn erbyn amcanion. Er mwyn cyflawni’r rôl hon, bydd angen i’r sawl a benodir gael y wybodaeth ddiweddaraf am faterion sy’n effeithio ar WGP fel datblygiadau mewn genomeg yng Nghymru.

Mae croeso i geisiadau gan unigolion sydd ag ystod eang o brofiadau:

  • profiad uniongyrchol neu anuniongyrchol (fel unigolyn, aelod o’r teulu neu ofalwr) o brofi genynnol a / neu’r broses o gydsyniad gwybodus ar gyfer profion o’r fath:
  • unrhyw ryngweithio â Gwasanaeth Genomeg Feddygol Cymru Gyfan
  • cymryd rhan mewn treial meddygaeth manwl neu ‘wedi’i bersonoli’, ee ar gyfer canser
  • profiad uniongyrchol neu anuniongyrchol (fel unigolyn, aelod o’r teulu neu ofalwr) o glefydau prin fel Ffibrosis Systig, Clefyd Huntington, Sglerosis Twberws
  • profiad uniongyrchol neu anuniongyrchol o fyw gyda / cefnogi plant / oedolion ag anhwylderau Oedi Datblygiadol
  • gallu i leisio eu barn mewn modd adeiladol
  • gallu i wrando ar safbwyntiau eraill a pharchu safbwyntiau eraill

Ad-delir y rôl gyda thaliad honorariwm a threuliau teithio yn unol â chanllawiau Ymchwil Iechyd a Gofal Cymru

Cysylltwch â ni i ofyn unrhyw gwestiynau neu gael sgwrs anffurfiol. Dylid anfon mynegiadau o ddiddordeb o ddim mwy na 500 gair yn amlinellu’ch profiad a’ch cymhellion i ymgeisio am y rôl hon at: Emma Hughes: emma@geneticalliance.org.uk erbyn 1 Mawrth 2021.

Young People’s Genomics Café: 17th Feb. 2021, 6pm


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.  At February’s café we have two great talks lined-up!

  •  Ethical Dilemmas in Genetics and Genomics – Dr Alexandra Murray (All Wales Medical Genomics Service) will pose some though-provoking medical genetics & genomics scenarios, including testing, consent, incidental findings, and other ethical issues
  • V for Vaccination: from Cowpox to Covid – join Dr David Llewellyn (Integrated Wellbeing Networks, Aneurin Bevan UHB) to learn about the social history of vaccination with a discussion on what it means now for Covid

 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 café is FREE to join via Zoom, but you will need to register via Eventbrite to receive the joining link.

Register here: https://tinyurl.com/y3u7kknt

Further information email walesgenepark@cardiff.ac.uk  

All Wales Genomics Survey for Nurses and Midwives


Genomics Partnership Wales (GPW) would like invite Nurses and Midwives in Wales to share their opinion about the impact of genomics in your area of work. Your responses will help inform future education and training initiatives and preparation of our workforce in line with the Welsh Government’s Genomics for Precision Medicine Strategy.

Although some nurses and midwives are already involved in genomics, we also recognise that many will be unfamiliar with how genomics is likely to be incorporated within their area of practice.

This survey has been developed by the Genomics Policy Unit at the University of South Wales in conjunction with Genomics Partnership Wales (GPW) which is responsible for the implementation of the Welsh Government’s Genomics for Precision Medicine Strategy.

Your participation is crucial to the success of this initiative and we would ask that you spare a few minutes to complete the survey. Participation in the survey is voluntary and anonymous.

Survey link English

Survey link Welsh

 

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