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


Schools’ Screening of GATTACA with Genetics Talk

Wales Gene Park and Into Film present a free, unique schools’ screening of the film GATTACA at The Vue Swansea, York Street, Swansea, SA1 3LZ

Tuesday 14th November 2017, 11am to 1pm

As part of the Into Film Festival 2017, join us for a screening of the thought-provoking and visually impressive sci-fi thriller GATTACA, about a world in which mass genetic engineering leads to inequality. The film will be followed by a short talk from Dr Anita Shaw about some of the issues raised in the film.

Spaces will be allocated on a first come, first served basis. Recommended age group 16+

Book via the Info Film website


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Rare Disease Patient Network Annual Meeting

18th October 2017, Park Inn, Cardiff City Centre, 9.45am-2.45pm

Join us for our third annual Rare Disease Patient Network meeting. Hear talks from expert speakers on the latest advances in the field of rare diseases. There will also be time for discussion and questions with our experts and opportunities for networking. The full agenda will be circulated in due course.

Lunch and refreshments provided

This event is FREE but you must register to attend via Eventbrite

For further information email or phone 02920 746940


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The Psychiatry of Huntington’s Disease

Friday 10th November 2017, Park Inn, Cardiff City Centre, 9.30am – 4pm

The objectives of this meeting are to give mental health professionals and psychiatrists confidence in recognising and managing the commoner symptoms encountered in HD, and to know when to refer on for a further opinion. Subjects covered will include recognising when someone may have HD when they present with psychiatric symptoms only, what is treatable, and what is not and also look at current and novel approaches to the treatment of psychiatric symptoms in HD.

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Topics include:

  • Mental health problems encountered in Huntington’s disease
  • Predictive testing in Huntington’s disease
  • Pharmacological management of psychiatric problems in Huntington’s disease
  • Neurobiology of Huntington’s disease
  • Diagnosis & management of cognitive decline and other symptoms in HD

Meeting programme available here

The meeting will be suitable for Psychiatrists, GPs, Mental Health Professionals and those involved in managing patients with HD. CPD Approval applied for.

Registration form available here

Meeting supported by Fieldbay


For further information, please email

Polyposis Meeting and Research Update

27th September 2017, Park Inn Hotel, Cardiff City Centre

This meeting will bring together gastroenterologists, pathologists, clinical geneticists, surgeons, paediatricians researchers, genetic counsellors and trainees from these specialties. The event is designed to provide updates across the specialties on the field of inherited polyposis syndromes. The event will also be an opportunity to hear about current research in Wales and to discuss relevant case studies that attendees are encouraged to prepare for the meeting.

Topics covered include:

  • Clinical aspects of polyposis
  • Genetics of polyposis syndromes
  • Upper GI surveillance
  • GI surgery perspectives
  • Update on Serrated Polyposis Syndrome

There will also be a panel discussion of case studies.

Registration will be at 9.30am, with a 10.00am start to the programme and the day will end at 4.00pm.

The full programme can be viewed here

Places are limited – first come first served!

For further information please email:

The meeting is being supported by Bowel Cancer West

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