Public Genomics Café, 29 Sept, 11am – 12.45pm, via Zoom – book now!


September’s café will feature relaxed talks including:

  • Genetics & Exercise – Can Your IL-6R Gene Influence Your Exercise Choices? Dr Richard Webb, School of Health Sciences, Cardiff Metropolitan University
  • A Personal Experience of a Rare Condition Rare Disease Advocate
  • Supporting those with Undiagnosed Conditions in Wales: the new SWAN Clinics Initiative Dr Ian Tully, All Wales Medical Genomics Service
  • And more…..

All welcome – FREE to attend

Register for Virtual Café: https://rb.gy/7svzxj

 

Wales Rare Diseases Action Plan 2022 – 2026 Launched


The families of people with rare diseases may have to undertake a long journey to find a to find a diagnosis (often called a diagnostic odyssey); there may be ignorance of their condition and as a result their care may be uncoordinated and individuals might not have access to the best treatment options.

The Wales Rare Diseases Action Plan aims to address these concerns by helping patients get a final diagnosis faster and increasing awareness of rare diseases among healthcare professionals, therefore promoting better coordination of care and improving access to specialist care, treatment, and medicines.

It can be found via the NHS Wales Health Collaborative webpages as can further information about the Rare Diseases Implementation Group.

Public Genomics Café: Tue 5th July 2022, 11am-12.45pm, Zoom – book now!


July’s café will feature relaxed talks including:

  • Enabling Diagnosis through Genomic Research Dr Karen Reed, Wales Gene Park
  • A Family’s Experience of the Rare Condition Neurofibromatosis type 1 (NF-1) Clare Giles, Rare Disease Advocate
  • The Impact of Rare Disease Through a Lens Ceridwen Hughes, Same But Different
  • A Personal Account of Thalassaemia Kyriacos Kanias, Rare Disease Advocate

All welcome – FREE to attend

Register for Virtual Café: https://rb.gy/34qeb5

For further information: walesgenepark@cardiff.ac.uk

Teachers’ Genetics & Genomics CPD: 23 June 2022, Cardiff Metropolitan University – book now!


Cutting-edge Biology: Teachers’ Genetics & Genomics CPD

9am – 3.45pm (talks start 9.30am), 23 June 2022

Cardiff Metropolitan University, Llandaff Campus, Cardiff CF5 2YB

Join Wales Gene Park, Cardiff Metropolitan University and Techniquest to learn more about the latest advances in the fast-moving field of genetics and genomics. Bring cutting-edge information to your secondary teaching with expert talks and interactive sessions. We are running a one-day Genetics & Genomics CPD event for teachers, funded by STEM Learning. Sessions include:

• Nutrigenomics & Epigenomics
• A Bioinformatics Workshop
• Analysing the Covid-19 Genome in Wales
• Tremolo, a brand new podcast drama about genetics for post-16 students
• A lab session on identifying SNPs associated with the genetics of taste, with stations including microscopes, measuring DNA, gel electrophoresis & interpreting results
• A discussion on genetics & ethics, including areas such as sequencing genomes and consent
• Opportunities offered by Cardiff Metropolitan University to prospective students

Funding: this course is subsidised by STEM LEARNING Ltd.

There is NO COST and teachers will be eligible for a £165 ENTHUSE bursary. To apply go to: https://www.stem.org.uk/cpd/512394/teachers-wales-only-cutting-edge-biology-genetics-genomics-cpd-teachers

Lunch and refreshments provided

Further information please contact: walesgenepark@cardiff.ac.uk

 

Invitation: Cross Party Group on Rare, Genetic & Undiagnosed Conditions, Wed 18 May 12:00-13:30, Zoom


We would like to invite you to a virtual meeting of the CPG on Rare, Genetic and Undiagnosed Conditions hosted by Mike Hedges MS on Wednesday 18 May, 12:00-13:30 via Zoom.

The Wales Rare Disease Action Plan will be launched at the meeting; setting out how the Department of Health and Social Care and delivery partners will implement the UK Rare Diseases Framework in Wales. The Action Plan will address the four priorities set out in the UK Rare Diseases Framework:

  • Priority 1: helping patients get a final diagnosis faster
  • Priority 2: increasing awareness of rare diseases among healthcare professionals
  • Priority 3: better coordination of care
  • Priority 4: improving access to specialist care, treatments and drugs

The meeting will also broach some of the key barriers limiting access to diagnosis in the UK and consider the recommendations identified in  Genetic Alliance UK’s Good Diagnosis report which aim to address these barriers.

We will be hearing from:

– Natalie Frankish, Lead on the Good Diagnosis Project at Genetic Alliance UK

– Claire Swan, Parent Representative at SWAN UK

– Graham Shortland, Chair of the Wales Rare Disease Implementation Group

Members of the rare condition community will be attending this meeting including people living with rare conditions, members from the pharmaceutical industry and the organisations responsible for implementing the Action Plan.

Booking via: eventbrite

Please ask your MS to register interest in the Wales Cross Party Group meeting using our email template. You can personalise it to add information about yourself.

This meeting will also host the AGM for the Cross Party Group on Rare, Genetic and Undiagnosed Conditions. If you are interested in becoming a member of the CPG, please contact rachel.clayton@geneticalliance.org.uk.

Please RSVP to rachel.clayton@geneticalliance.org.uk for more information on the meeting.

Join the Genomics Partnership Wales Sounding Board – 2022 Applications now open!


Interested in having your voice heard?

We’re looking to recruit individuals with a range of experiences to join our Sounding Board! We know the issues surrounding genomics are complex and want to work with members of the public, to help us shape the future of Genomics.

Join our Sounding Board for an opportunity to help shape policies, care pathways and research that will affect people with rare or inherited diseases, or those requiring genetic testing as part of their healthcare.

Please complete an Expression of Interest form on the Health and Care Research Wales website by the 31st of May, 2022.

Take a look at the full role description here 

Virtual Public Genomics Café: 26th April, 11am – 12.45pm. Book now!


April’s café will feature relaxed talks including:

  • Mini-guts for Cancer Research
    Angharad Walters & Becky Truscott, Inherited Tumour Syndromes Research Group, Cardiff University
  • An update on the new All-Wales SWAN (Syndromes Without a Name) clinics
    Dr Graham Shortland, Rare Disease Implementation Group
  • Involving Patients to Shape Genomics in Wales
    Genomics Partnership Wales
  • An Update from SWAN UK Cymru & News of Undiagnosed Children’s Day 2022 Amanda Thomas, SWAN UK Cymru

All welcome – FREE to attend. Register for Virtual Café: https://rb.gy/indcss