Communications and Marketing Officer Karen, and Intern Jhon attended the Scottish Parliament on 20th February to celebrate Rare Disease Day arranged by Rare Disease UK. We heard from a range of speakers including Bob Doris MSP, Convenor of the Cross Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions.
We were pleased to hear from Professor Faisal Ahmed, who is a Trustee of the BBS, who spoke about the Office for Rare Conditions in Glasgow. The Office aims to raise awareness of rare conditions and promote participation in research.
On the topic of research, an update was provided on the progress in the 100,000 Genomes project. This is an exciting opportunity to sequence 100,000 genomes from around 70,000 NHS patients with a rare disease and their families.
Finally, the event included moving speeches from the two parents, who have children with rare diseases and the importance of research in improving their quality of life. As the BBS goes forward in opening the research grants programme for a second round of applications, we will be ensuring that the patient voice continues to be at the heart of our work, through our Patient and Public Involvement groups to our lay representation on the Research Committee.