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,… Read more »
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… Read more »
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… Read more »
Get involved with Undiagnosed Children’s Day 2022 on Friday April 29th! To find out more about any of the activities email info@undiagnosed.org.uk
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… Read more »
Project Officer (within Education & Engagement Team) – closing date 21st March 2022 Training Officer (within Education & Engagement Team) – closing date 27th March 2022 System Administrator – closing date 27th March 2022
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… Read more »
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… Read more »
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… Read more »
To mark Rare Disease Day 2022, Health and Care Research Wales is highlighting the story of Marie James, mum of 35-year-old Trystan James who is affected by a rare disease where tumours develop in different parts of the body. Marie is championing research into rare diseases to enrich and improve her son’s life. Marie and… Read more »
