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

 

Young People’s Genomics Café Tuesday 31st May, 6 – 7.30pm, Zoom: book now!


Are you a young person interested in finding out more about genomics and health, or affected by a rare or genetic condition? Join us! These events are aimed at those aged 16 to 25. May’s café will feature relaxed talks including:

  • What is a Genome? And what can we do with it?
    Dr Hannah West, Centre for Medical Education, Cardiff University
  • Mini-guts for Cancer Research
    Becky Truscott, Inherited Tumour Syndromes Research Group, Cardiff University
  • Can Your IL-6R Gene Influence Your Exercise Choices?
    Dr Richard Webb, School of Health Sciences, Cardiff Metropolitan University

All welcome – FREE to attend. Register for Virtual Café: https://rb.gy/w7itz4

Don’t forget to bring your cuppa! For further information: 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

Genetic Alliance UK Launches Good Diagnosis Report


To coincide with Rare Disease Day 2022, Genetic Alliance UK has launched a new report, ‘Good Diagnosis: Improving the experiences of diagnosis for people living with rare conditions’.

Read the full report here.

PRINCIPLES OF GOOD DIAGNOSIS

The experience of diagnosis is, at its essence, a very personal and individual experience. There is no one right way to pursue or receive a diagnosis, what works for one person may not be appropriate for another. However, our report identified some guiding principles.

INCREASING AWARENESS OF RARE CONDITIONS AMONG HEALTHCARE PROFESSIONALS WILL HELP IMPROVE THE DIAGNOSIS EXPERIENCE

Our findings show that central to a good diagnosis are healthcare professionals who recognise and are aware of rare conditions. Of course no healthcare professional can be aware of all rare conditions individually, but ignorance of rare conditions generally leads to slower referral, slower diagnosis, misdiagnoses and slower access to appropriate specialised care.

We must urgently take steps to raise awareness of rare conditions among healthcare professionals and to provide them with the information and resources required to support their patients.

PEOPLE WITH RARE CONDITIONS SHOULD RECEIVE INFORMATION AND SUPPORT THROUGHOUT THEIR DIAGNOSIS JOURNEY

Having insufficient information to meet their medical and non-medical needs can contribute to feelings of isolation, poor management of their condition or uninformed decision making. Too often people are left to research their own symptoms, or diagnosis, and this can lead to people finding unreliable, potentially alarming information which they have to digest without the support of a person who understands the condition.

Throughout the diagnosis journey, individuals and families need to be made aware of available reliable sources of information that they may want to use to research their condition or access support and information.

DEVELOPING A GOOD DIAGNOSIS PATIENT RIGHTS CHARTER

People living with rare conditions describe feeling frustrated at poor communication about their care and the ‘battle’ and ‘struggle’ to get referred for tests, or for assessment at specialist centres. Even once a diagnosis is made, it may not be the end of the struggle. When an individual has a diagnosis of a rare condition that their principal healthcare professional does not know a lot about, they may continue to experience delays in being started on the correct care or treatment pathway, they may experience delays in accessing appropriate services, medicines or research.

Having to fight for the right care or treatment can be extremely challenging, particularly when unwell. The fight can be harder when a person is unsure about what rights they have, or who can support them. It is vital that people with rare conditions are aware of what to expect from the diagnosis journey, aware of their rights and how they can challenge decisions.

The Good Diagnosis report recommends that a Rare Conditions Good Diagnosis Patient Rights Charter should be developed to clearly communicate the standard of care people with rare conditions should expect to receive.

Genetic Alliance UK will undertake a new project in early 2022 to develop a Good Diagnosis Patient Rights Charter, and we want to hear your views on what it should look like.

Interested in getting involved? Email natalie@geneticalliance.org.uk  

 

Cancer patient benefits after routine clinical genomic data is used for research


A cancer patient in Wales, who had not reacted well to the standard cancer therapy, was facing a situation of having very limited treatment options available to them. Analysis of their cancer’s genomic data provided a new avenue of treatment.  Just before Christmas 2021, they were able to be recruited to a clinical trial for a new targeted therapy. Their latest imaging tests have shown that the cancer has shrunk in response to this new trial treatment. This is an excellent example of personalised treatment and highlights the value of genomics in improving care for cancer patients.

In 2019 the patient had received cancer surgery through the NHS in Wales after being diagnosed with colorectal cancer. They had gone to their GP with symptoms (of bleeding from the rectum), who referred them for endoscopy which was used to confirm the diagnosis. They received chemotherapy treatment but experienced an adverse reaction to the drug, meaning they had to stop receiving the treatment. Unfortunately, the patient had a relapse and the cancer spread to their lungs. A different chemotherapy treatment was unable to stop the disease progressing, leaving very few treatment options available to them.

At the point Wales Gene Park, working with the clinical genomics diagnostic lab in Wales (All Wales Medical Genomics Service) and the NHS clinical oncology team, analysed stored genomic data to identify patients potentially eligible to participate in a clinical trial for a new targeted cancer therapy.

The clinical trial is testing a new drug that specifically targets a rare genetic variant present in less than 5% of all colorectal cancers. Analysis of the patient’s cancer genomic data identified the required rare gene variant that meant they could take part in the trial. They started treatment as part of the trial, and recent check-ups have shown that the treatment appears to be working at these early stages.

This case demonstrates how re-analysis of clinical genomic data can lead to the identification of rare genetic variants which can sometimes enable patients to join clinical trials. In doing so, this allows the possibility of providing more personalised treatments that have the potential to improve outcomes for cancer patients.

 

Tremolo – a podcast drama by Lisa Parry. Available now!


If you knew you could have a serious medical condition and could find out, would you? How could this affect your friends and family?

These questions and more are explored through Harri’s story, an 18-year-old who’s just finished his exams and ready to follow his dreams. His world is turned upside down when his mother is diagnosed with early onset familial Alzheimer’s disease, a condition Harri and his sister each have a 50 per cent chance of inheriting.

Should he take a test to find out if he has it too? Tremolo offers listeners a real insight, exploring the impact of Harri’s choice on his relationships and dreams.

Tremolo is aimed primarily at students aged 16+, but also available to the wider public. It is available in both English and Welsh from March 3rd 2022 to listen and download via platforms including Spotify, Apple Podcasts, AM & on Theatr Genedlaethol’s website.

You can also link to it on Spotify below:

The podcast series will also feature episodes from the drama’s creative team discussing the themes of the play, as well as contributions from genetics specialists.

Tremolo is an Illumine Theatre production in partnership with Wales Gene Park and Theatr Genedlaethol Cymru, supported by the Genetics Society.

Starring Gareth Elis. Written by Lisa Parry, directed by Zoë Waterman, harp music composed and played by Eira Lynn Jones, sound design and editing by Rhys Young, assistant director Branwen Davies, additional music by Yws Gwynedd. Tremolo was recorded at Hoot Studios, Cardiff.

Education Pack

The drama is also accompanied by an education pack for schools & colleges aimed at year 12/13 students. The pack contains:

Creative content including

  • A synopsis of the drama
  • Interviews with the creative team
  • Creative activities

Scientific content including

  • Information Toolkit
  • Careers Support
  • Scientific Activities
  • Points for reflection
  • Help and support

Teachers/educators can get a copy of the pack by emailing walesgenepark@cardiff.ac.uk