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 2023

We were delighted to run our annual Rare Disease Day event on 27th February 2023. The event is tailored to secondary school years 10, 11 and 12 and once again, 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.

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.

If you have any questions about our Rare Disease Day 2023 or future events please email Prof Rafael Yáñez at rafael.yanez@royalholloway.ac.uk.

Exhibitors:

• Ashford and St Peter’s Hospital
• Beacon
• British Society for Gene and Cell Therapy
• Cambridge Rare Disease Network
• Genetic Alliance UK
• Haemochromatosis Society
• Roald Dahl’s Marvellous Children’s Charity
• Royal Holloway History
• The Sickle Cell Society
• Unique

Resources:

• Beacon: Rare Disease by the Numbers
• BSGCT - Tips for Getting into Science
• Same but Different virtual Rare Disease photography exhibitions
• Sickle Cell Society - Screening Poster #Test4Gene
• Sickle Cell Society - An A-Z of Sickle Cell Poster
• Sickle Cell Society - No one's listening information leaflet
• Sickle Cell Society - A parent's guide

Donated blood forms a key part of the current treatments for sickle cell disorder. Regular blood transfusions are used to treat anaemia and can help prevent other symptoms associated with sickle cell, including strokes. Ethnically matched blood is required as it is less likely to be rejected by people having frequent blood transfusions, and some blood types, such as the Ro subtype, are more commonly found in people of African and Caribbean heritage than people with white heritage. You can register to donate at http://bit.ly/scsgiveblood