Rare Disease Day is an international awareness day celebrated in over 100 countries on the last day of February each year (because this is a rare day in a leap year).
Founder’s building illuminated in the colours of Rare Disease Day
Each rare disease affects relatively few people, but as there are over 9,000 rare diseases, all together they affect 7% of people at some stage in their lives: this is 3.5 million people in the UK, and 300 million people in the world. Many of these diseases affect children and are very severe, their diagnosis is often lengthy and complicated, and for most there are no effective treatments. For all these reasons it is very important to support people affected and improve their care, and to research their diseases and how to treat them. This is one of our research strengths, and Royal Holloway has been a committed supporter of Rare Disease Day for over a decade. The last two years we have switched to a virtual event to overcome the COVID-19 pandemic restrictions. This year we also participated in the Global Chain of Lights: the North façade of Founder’s building was illuminated in the colours of Rare Disease Day on the evening of 28th February.
Royal Holloway’s Rare Disease Day 2022 programme was organised by Professor Rafael Yáñez-Muñoz, director of the Centre of Gene and Cell Therapy (CGCT) in the Department of Biological Sciences and the current president of the British Society for Gene and Cell Therapy. We hosted 14 schools and over 400 students, making it our best attended event so far, with a virtual programme of events to showcase important research to tackle rare diseases and their impact, recognise charity partners we work with, and to inspire others to get involved. Special guest speakers included Dr Robyn Bell from The British Society for Gene and Cell Therapy, and Linda Popplewell, Professor of Molecular Therapies at Royal Holloway, University of London.
Professor Yáñez-Muñoz commented, “The community feel of our university is exemplified in Royal Holloway’s participation in Rare Disease Day, which is only possible because of College-wide support from staff, postgraduate and undergraduate students, working together and with external stakeholders to deliver an excellent event, which is highly appreciated by secondary schools and colleges, and by people affected by these diseases and their families.”
Rare Disease research at Royal Holloway
Professor Yáñez-Muñoz leads the AGCTlab.org, focused on the development of safe and effective genetic and stem cell treatments, and the CGCT. In this centre, staff and students from the Biological Sciences, Computer Science and History departments work closely together and with external partners to develop novel therapeutics for rare diseases including ataxia telangiectasia, motor neuron disease (ALS) and spinal muscular atrophy, but also for more common ailments like spinal injuries and Parkinson Disease. They also work on the identification of genes responsible for rare diseases and on the repurposing of approved drug treatments for new applications. Additionally, they study the history of rare diseases from antiquity to the Middle Ages. Genetic and cell therapies are a very exciting research field because in the last few years several gene and stem cell treatments have finally been approved for marketing, with many more in the pipeline. Research in this area is evolving quickly, with new technologies like CRISPR genome editing, which we use for ataxia telangiectasia, becoming increasingly important.