Join us for the third ‘3G’ public genetics conference!

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

10am to 3pm, 13th June 2018, Holiday Inn, Castle Street, Cardiff CF10 1XD

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 3rd Wales Gene Park 3G conference!

Hear expert talks on topics including:

  • Avoiding Dementia – what can be done?
  • The Genetics of Sleep: Implications for Physical and Mental Health
  • Family History & Ancestry
  • Genomics and Medicine

And more…..

Join us all day or drop in for some the talks (talks are 20 mins. with time for questions with our expert speakers, and a 5 minute break between talks to drop-in or out). There will also be a range of interactive stands showcasing some of the latest research and projects in Wales!

The event is aimed at members of the public over 50, but everyone is welcome! Refreshments and lunch provided!

Attendance is FREE. Registration required via Eventbrite:

Further information: email or phone 02920 746940

Spotlight on Genomics: 18th – 19th June 2018

Spotlight on Genomics: 18th – 19th June 2018, Park Inn by Radisson, Cardiff City Centre

Wales Gene Park invites you to join us for a two-day meeting entitled ‘Spotlight on Genomics’. Day One will focus on genome editing and Day Two will feature next generation sequencing-related technologies. Due to an increase in sponsorship obtained, we are able to offer 40 places free of charge.  Places will be allocated on a first come first served basis so register today to avoid disappointment.

This event will bring together research communities (academic, clinical and commercial) within Wales and the surrounding regions to hear about the latest advances in these exciting areas and showcase expertise and research interests. There will also be opportunities for networking and developing collaborations.

Each day will include keynote speakers, short talks and presentations from selected poster submissions. In addition, exhibits and dedicated sessions of short talks from sponsoring companies will provide delegates with an opportunity to discover more about the latest technological advances.

If you have any queries, please email or to reserve a place, please complete and return the attached registration form.



Research Study: What do you think genetic counselling is?

Are you or your family member affected by or at risk of a genetic condition?

Want to improve the quality of genetic counselling services and how they communicate with patients?

At Cardiff University, we are seeking the views of people from families affected by genetic condition, but who have NOT (yet) had genetic counselling themselves, to try and understand what people may expect from the service.

We are asking the question: ‘What do members of families affected by genetic conditions think genetic counselling is?’ Finding an answer will help the service to understand what patients expect, and develop effective ways to communicate with patients and families.

Taking part will involve an interview that can be done in person, by telephone or via Skype, whichever is most convenient for you.

If you are interested in participating, please contact Marion McAllister on or 029 2251 0811 who can send you a Participant Information Sheet and Consent Form.


Rare Disease Day 2018 Senedd Reception

On 14th February 2018, Wales joined the many hundreds of thousands of others across the globe in raising awareness of rare diseases and the commonalities of experience that create our cohesive rare disease community.

Rare Disease UK, a campaign established by Genetic Alliance UK, holds an annual reception in the Senedd to bring stakeholders together including patients, families & carers, third sector organisations, health and social care professionals, policy makers, scientists, drug developers, commissioners and regulators to mark this occasion. The event ensures that the voice of people affected by rare, genetic and undiagnosed conditions is focal to discussions driving forward policy and service development.

Rare Disease Day 2018 Senedd Reception

The reception included presentations on the Welsh Implementation Plan for Rare Diseases, the Genomics for Precision Medicine Strategy, a personal experience of the rare condition Williams Syndrome and the official launch of the 100,000 Genomes Project by the Cabinet Secretary for Health and Social Services, Vaughan Gething. There was also an opportunity for attendees to view two exhibitions – the Rare Beauty exhibition by Welsh photographer Ceridwen Hughes, and the Expressions of Hope exhibition, a collection of art work by patients and family members affected by lysosomal storage disorders.

Darren Millar AM opened the reception and welcomed guests. As Shadow Secretary for Education and Children in the Assembly, Darren has a good understanding of the issues affecting those with rare and genetic conditions and is passionate about making them a priority within the Welsh NHS.

Dr Jayne Spink, CEO of Genetic Alliance UK, spoke about the Welsh Government Implementation Plan for Rare Diseases which was launched in 2015 and has since been updated to address how the 51 commitments within the broader UK Strategy will be implemented locally. Jayne highlighted that Genetic Alliance UK is fortunate to work within the Wales Gene Park – and the enormous benefit this brings with respect to the role of the organisation in supporting the delivery of the Welsh Implementation Plan and Genomics for Precision Medicine Strategy.

Dr Jayne Spink commented: ‘The close relationship with the Gene Park allows us to all the better bridge the gap between patients, families and policy makers, researchers and health professionals. One way that we are doing this involves the development of a research portal for rare diseases to support patients and families as well as researchers and health professionals who are research active to signpost them to appropriate opportunities.’

Jayne also stated that in Wales, Genetic Alliance UK is planning to establish a Cross Party Group in the Assembly for Rare, Genetic and Undiagnosed Conditions which will bring the issues of patients and families to parliamentarians to ensure they are prioritised.

Cabinet Secretary for Health and Social Services, Vaughan Gething launches the 100,000 Genomes Project in Wales at the Rare Disease Senedd Reception.

Cabinet Secretary for Health and Social Services, Vaughan Gething highlighted the Welsh Government investment in the New Treatment Fund which has recently benefited early access to a new medicine for Fabry patients in Wales. He went on to formally launch the 100,000 Genomes Project in Wales following which, Professor Julian Sampson spoke about the benefit of the project to rare disease patients. Dr Graham Shortland provided an update on progress delivering the Welsh Implementation Plan for Rare Diseases and Sarah Bennett-Evans, mum to 4 year old Harrison, gave an emotional personal perspective about the effect of the rare condition Williams Syndrome on their family and the work she does to raise awareness through the Williams Syndrome Foundation.

L to R: Sarah Bennett-Evans, Professor Julian Sampson, Darren Millar AM, Jayne Spink, Dr Graham Shortland.

The event provided an excellent opportunity for stakeholders to learn about how patients who have an undiagnosed genetic condition can benefit from taking part in the 100,000 Genomes Project, more information about which can be found in the official announcement from the Welsh Government published following the launch.

More information about the work of Genetic Alliance UK and it’s collaboration with the Wales Gene Park can be found here.

Launch of 100,000 Genomes Project in Wales

The Wales Genomic Medicine Centre (GMC) is delighted to announce that on 14th February 2018 the 100,000 Genomes Project was launched officially in Wales by Vaughn Gething AM, Cabinet Secretary for Health and Social Care. The aim of this ambitious project is to integrate genomic testing into the NHS. By participating in this project, eligible Welsh patients with undiagnosed rare genetic diseases will have the opportunity to access Whole Genome Sequencing for the first time in Wales. This will be done through the All Wales Medical Genetics Service.

The project was launched officially on 14th February 2018 at the annual Rare Disease Day Reception at the Senedd in Cardiff and the announcement from Welsh Government can be read here.


Rare Disease Day 2018 – Senedd reception

14th February 2018, 6-8pm

Join Rare Disease UK for our annual Rare Disease Day reception at the Senedd.

The theme for Rare Disease Day 2018 is: ‘Research’, continuing on from 2017. The event will include an update on progress with implementing the Welsh Government Rare Disease Implementation Plan and the progress of the recruitment for the 100,000 Genomes Project in Wales. The event will have further information on the establishment of a Cross Party Group for Rare, Genetic and Undiagnosed Conditions. We will also have some talks from speakers affected by rare diseases who will be sharing their personal experiences during the event.

Speakers include:

  • Professor Julian Sampson, Clinical Geneticist at Cardiff and Vale UHB and Lead for the 100,000 Genomes Project in Wales
  • Sarah Bennett-Evans, parent of a son with Williams Syndrome
  • Dr Jayne Spink, Chair Rare Disease UK

Book your place at the Rare Disease Day reception here

Canapés and light refreshments provided.

For more information, you can also contact the Genetic Alliance UK Policy & Engagement Manager (Wales), Emma Hughes –

SWAN (Syndromes without a Name) Event

Undiagnosed Genetic Conditions Information Event

30th January 2018, 10am – 2pm, The Park Inn, Cardiff City Centre, CF10 2JH (opposite the Motorpoint Arena).

Does your child have global development delay (GDD) or learning/ physical difficulties that are unexplained?​ Has your child had genetic tests that have come back negative or with results of unknown clinical significance? Is your child taking part in, or are you hoping they will take part in, genetic research such as Deciphering Developmental Disorders (DDD) or 100,000 Genomes Project?

If you answered yes to any, or all, of the above questions then come along – places are free but booking is essential. Email: or call 02078 310883.

Speakers include a parent of a child with an undiagnosed genetic condition and representatives from the All Wales Medical Genetics Service, Wales Gene Park and 100,000 Genomes Project Wales. The talks will cover:

  • Why are some genetic conditions so hard to diagnose?
  • What are genetic tests? Why does genetic testing take so long?
  • What is life like raising a child with an undiagnosed genetic condition?
  • Update on Deciphering Developmental Disorders (DDD)/ 100,000 Genomes Project

You will also be able to meet other local families with similar experiences and local SWAN UK Rep Amy Griffiths

Visit SWAN UK to find out more about their work.

The Future of Cancer Treatment – public event

Free public event

Thursday 22 February 2018, 6:30pm – 8pm (talks start 6.30pm, doors open 6pm)

Hadyn Ellis Building, Maindy Road, Cardiff University, CF24 4HQ

‘Personalised medicine’ is a way of providing treatments and healthcare tailored to individuals rather than using a ‘one-size fits all’ approach. Scientific advances, such as whole genome sequencing and wearable technologies give scientists and medics more data. This helps medical teams and patients make better decisions on which treatment might work best for them.

To celebrate the launch of the Welsh Government’s Genomics for Precision Medicine Strategy, our event will feature researchers, clinicians and patients talking about:

  • Personalised medicine and what it means to you
  • What ‘big data’ means and how we’ll use this information
  • How using this approach benefits cancer patients

Put your questions to our panel and hear from our line-up of expert speakers. There will be an opportunity to browse relevant information stands before the talks start.

This event is free to attend. Refreshments will be provided and there will be an opportunity to browse Information stands.

For full event details and to register your place, please visit:

Wales Gene Park Annual Report 2016- 2017

annual report 2The Wales Gene Park Annual Report 2016- 2017 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. This year we have undertaken work on thirty five genomic projects and trebled our output of DNA sequencing for researchers. We have supported external research grants bringing over £3M to Wales. But our work goes far beyond this. We 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:

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


Genetics & Mental Health: what do we know?

As part of Cardiff University School of Medicine’s Science in Health Public Lecture Series we are holding a free public talk to mark World Mental Health Day

Genetics & Mental Health: what do we know?  Dr Annie Procter, Consultant Geneticist & Director of the Mental Health Clinical Board, Cardiff and Vale University Health Board

Thursday 12th October 2017, 7pm, Large Chemistry Lecture Theatre, Cardiff University

The factors which influence mental health and wellbeing at any stage of life are many and varied.  These factors can interact in highly complex ways that can vary from day to day and can have a greater or lesser impact at different times during an individual’s lifetime.  As we learn more about our genome and how it functions, we are gaining greater insights into the influence of genetics on mental and physical health.  This lecture will explore some of the insights we have gained into the role genetics can play in mental wellbeing and the mental health challenges this can present to those affected and their families and carers.

FREE to attend, no booking required.

For further details contact or or visit

Poster 12.10.17