To celebrate the 2nd anniversary of the Manchester Rare Conditions Centre (MRCC), the team proudly hosted the RARE @ Manchester Event, showcasing the ongoing efforts to improve the lives of those living with rare conditions. The event featured guest speakers from across England and Scotland, sharing knowledge, achievements, research, and lived experiences. Check out our short video below.
Dr Kath Bainbridge from the Department of Health and Social care provided insights into the UK Rare Disease Framework and how this is informing the Rare Disease Action Plan and future policies.
Professor Tim Barrett from the University of Birmingham shared the amazing progress from the Birmingham Rare Disease Centre highlighting the importance of collaborative working and shared learning.
Our guest speakers, including Dr Louise McKay from Medics 4 Rare Diseases, Jessica McAndrews, Dr Clara Tang from the Kabuki Syndrome Foundation, and Professor Ramona Moldovan from The Whitworth Group, enriched the event by sharing lived experiences and their ambitions to educate healthcare professionals. They also discussed the need to challenge current perceptions around rare conditions.
We received 28 abstract submissions, highlighting groundbreaking research, clinical trials, and new approaches to understanding rare conditions. Two awards were presented for outstanding contributions:
Congratulations to Jabcob Sampson for winning the Jane Eddleston Award for his work on Mapping of genomic variants regulating gene expression in the retina reveals non-coding variants associated with eye-disease genes.
Congratulations to Rebecca Yarwood for winning the We R Rare Award for her work on Zebrafish models of complex hereditary spastic paraplegia caused by variants in the Kennedy pathway gene, PCYT2 .