Clwyd West AM Darren Millar hosted and spoke at the official launch of the 100,000 Genomes Project in Wales this week at the Rare Disease Day event in the Senedd.
Rare Disease Day is an annual event recognised by countries around the world that aims to raise awareness about rare diseases and their impact on patients. It takes place on the 29 February (i.e. a “rare day”). When it is not a leap year it is marked on the 28 February.
At this year’s Assembly event, which took part on Wednesday, the 100,000 Genomes Project in Wales was officially launched.
“The aim of this ambitious project is to integrate genomic testing into the NHS. By participating in this project, eligible Welsh patients with undiagnosed rare genetic diseases will have the opportunity to access Whole Genome Sequencing for the first time in Wales, done through the All Wales Medical Genetics Service.”
“It is particularly pertinent that this project was launched at the Rare Disease Day event as the theme for Rare Disease Day 2018 is research.
“Rare Disease Day 2018 highlights the importance of research by carrying on the theme from 2017. Rare disease research contributes to the development of diagnostic tools, treatments and cures, as well as improved health and social care for patients and their families.
“The patient community needs researchers. They discover diseases and develop treatments and cures, but researchers also need patients and reply upon their participation to ensure research is meaningful.
“Over the last few decades, funds dedicated to rare disease research have increased. But it can’t stop there. Rare Disease Day 2018 is therefore an opportunity to call upon researchers, universities, students, companies, policy makers and clinicians to do more research and to make them aware of the importance of research for the rare disease community.”