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. October’s café will feature relaxed talks including: Chromosomes! Dr Andrew Fry, Clinical Senior Lecturer in Medical Genetics, Cardiff University An Introduction… Read more »
Genomics Partnership Wales is taking over Techniquest for one night only! Join us for an evening of fun activities that will give you an understanding of the fascinating world of genetics and genomics. Activities include: DNA Extractions Public Talks Interactive Stands Techniquest’s own hands-on exhibits Star-Tours in the planetarium Fully Licensed Bar Full event details… Read more »
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… Read more »
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 »
The Preliminary Report on the 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care has been published in The New England Journal of Medicine. The full article, including a visual abstract, can be found here.
Cardiff University’s Wales Gene Park is to partner with three organisations to develop a new £15.3m state-of-the-art genomics facility in the Welsh capital, it was announced today. Genomics Partnership Wales has been granted Welsh Government approval to develop the centre at Cardiff Edge Life Sciences Park in Coryton. Wales Gene Park, which is… Read more »
The Wales Gene Park Annual Report 2020 – 2021 is now available here
