Families in Wales affected by undiagnosed and rare conditions to be better supported thanks to a three year project funded by the National Lottery Community Fund in Wales. About SWAN UK SWAN stands for ‘syndromes without a name’. It is not a diagnosis, but a term used to describe a genetic condition so rare it… Read more »
Louise Wilkinson – Rare Disease Advocate and Genomics Partnership Wales Patient and Public Sounding Board Member – shares her family’s personal experiences of her son Dafydd’s rare condition and diagnosis through genomic testing. Dafydd – One in a Million Dafydd was a happy smiley baby and despite a difficult birth (born 2 weeks early by… Read more »
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 »
Genetic Alliance UK welcomes the publication of the UK’s Rare Diseases Framework and looks forward to working with the four nations of the UK to help deliver its aims. This is once again an almost unique piece of health policy in that it represents a commitment from the UK’s four health ministers to deliver a… Read more »
The Wales Gene Park Annual Report 2019 – 2020 is now available here The report shows how Wales Gene Park has evolved and adapted to make the very most in Wales of the opportunities presented by genomics. A major part of what the Wales Gene Park does is to make genomic technologies available to biomedical… Read more »
