Rare Disease Day is an international day celebrated in over 100 countries to raise awareness amongst the general public, the clinical community, and decision-makers about rare diseases and their impact on people affected and their families. At Royal Holloway we have celebrated the day since 2011 by inviting sixth form, college and secondary school students, and members of the public to attend lectures, an exhibition and to get hands-on experience in our labs.
In Europe, a rare disease is defined as one which affects fewer than 1 in 2,000 people. Most rare diseases are genetic. While each of them is rare, there are over 9,600 rare diseases, which together affect 3.5 million people in the UK at some point in their lives, taking 20% of all health care costs. Rare diseases are a serious health concern and an international priority, but unfortunately often very little is known about them by health professionals and the public alike.
Royal Holloway scientists are at the forefront in developing innovative techniques in gene and cell therapy for several rare diseases including Spinal muscular atrophy, Ataxia telangiectasia and Motor neuron disease. This research is carried out in our Centre of Gene and Cell Therapy.
Rare Disease Day 2024
This year we ran our annual Rare Disease Day event on 28th February 2024. The event was tailored to secondary school years 10, 11 and 12 and we kept to the format from previous years, with live talks, live exhibition, speed-dating and hands-on activities. The event touched on medicine, genetics, genomics, biomedical research, societal aspects of rare diseases, as well as university life and other general topics. Our themes were of particular interest to students considering health-related and science careers.
Our 2024 Exhibitors
We warmly welcomed the following partners to our Rare Disease Day:
• Ataxia UK
• British Society for Gene and Cell Therapy
• DEBRA
• Haemochromatosis UK
• Royal Holloway AGCTlab
• Royal Holloway Augustin Lab
• Shine
• The Sickle Cell Society
• SMA UK
• UK Thalassaemia Society
• Unique
Resources
- It’s In Our Genes – a report into families’ experience and perspective on receiving newborn blood spot screening results, produced jointly for NHS England by the UK Thalassaemia Society and the Sickle Cell Societies
- SCT Screening poster – flyer about screening for sickle cell and thalassaemia
- The UKTS Clinical Standards for the care of children and adults with thalassaemia 4th Edition (2023)
- Beta Thalassaemia Carrier Leaflet – information about carrying the gene for beta thalassaemia.
- Lets talk about Sickle Cell
- Sickle Cell Helpline leaflet
- Sickle Cell Society Impact report 2023
If you have any questions about our Rare Disease Day 2024 or future events please email Prof Rafael Yáñez at rafael.yanez@royalholloway.ac.uk or Dr Alberto Malerba at alberto.malerba@royalholloway.ac.uk.
Our 2024 Rare Disease Day Lectures are available to view here.
Rare Disease Day 2023
We were delighted to run our annual Rare Disease Day event on 27th February 2023. Building on many years of success, there was great interest from many schools, resulting in a fully booked event.
The Lectures for Rare Disease Day 2023 included:
- Introduction to Rare Disease Day, Prof Rafael J. Yáñez Muñoz (Prof of Advanced Therapy at Royal Holloway University of London, http://agctlab.org, @rjyanezmunoz)
- Genetic counselling for Rare Diseases, Dr Juliette Harris (Specialist Genetic Counsellor, Ehlers-Danlos Syndrome national diagnostic service)
- Gene therapy for Duchenne muscular dystrophy, Dr Alberto Malerba (Lecturer in Gene Therapy at Royal Holloway University of London, https://pure.royalholloway.ac.uk/en/persons/alberto-malerba)
Our 2023 Rare Disease Day Lectures are available to view here.
Find out more about our previous Rare Disease Day Events
Previous exhibitors have included:
Action Duchenne, AKU Society, Ashford and St Peter’s Hospital, The Association of the British Pharmaceutical Industry, AT Society, British Society for Gene and Cell Therapy, Brittle Bone Society, Cambridge Rare Disease Network, DEBRA, Ehlers-Danlos Support UK, The Fragile X Society, Findacure, Gain, Genetic Alliance UK, Genetic Disorders UK, The Haemochromatosis Society, Haemochromatosis UK, Ichthyosis Support Group, Muscular Dystrophy UK, Myasthenia Gravis Association, Play Well For Life, Roald Dahl’s Marvellous Children’s Charity, Rare Disease UK, Royal Holloway Computer Science, Royal Holloway History, Same but Different, Shine, The Sickle Cell Society, The Society of Biology, Spinal Muscular Atrophy UK, StoryFutures, SWAN UK, Treat SMA, Tuberous Sclerosis Association, UK Thalasaemia Society & many others.
Previous Rare Disease Day themes have included:
2022- Share your colours
2021- Rare is many, Rare is strong, Rare is proud
2020 - We are the 300 million
2019 - Bridging health and social care
2018 - Taking patient involvement to the next level
2017 - Research brings hope to people living with a rare disease
2016 - Patient Voice: Join us in making the voice of rare diseases heard
