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 »
For Professionals – News
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
A new report has been published by the Welsh Cross Party Group for Rare, Genetic & Undiagnosed Conditions to coincide with the Rare Disease Day 2021 UK-wide Parliamentary Event on 24th February. The Welsh Cross Party Group for Rare, Genetic & Undiagnosed Conditions held its inaugural meeting in the Senedd in September 2019. Over the… Read more »