Rare Disease Day - Royal Holloway University of London

Friday February 24th, the day I visited Royal Holloway University of London for the Rare Disease Day lectures!

After a 2 hour train journey and a 20 minute walk, my friends and I found ourselves walking up the beautiful hills of the university campus. (We were shocked that the castle was part of it!)

At 9:30am, Dr Rafael Yanez gave a presentation on the introduction to rare diseases, The statistics were astonishing; In Europe alone, 1 in 2000 people are affected with a rare disease (which there are over 6000 discovered). He spoke of the importance and need for researchers and doctors, as gene and stem cell therapy are developing but there needs to be more awareness and funding.

At 10:10am, Lauren Roberts from Genetic Alliance UK (charity here) spoke about "SWAN" patients, who have syndromes without a name. She showed us the affect of rare diseases on the people and their families. 6000 children each year are born with SWAN, but only 50% are tested. It's hard to find treatment, care and help when you don't even know your own diagnosis, My heart definitely goes out to them all.

The lectures then unfortunately over-ran on schedule, so Sean Kelly and Alberto Malerba gave presentations on 2 rare diseases: Ataxia Telangiectasia (A-T) which affects children;s balance and motor condition, and Oculopharyngeal Muscular Dystrophy and the chemical aspect of it.

We were then all split into groups and escorted to the exhibition, which was full of different charities and organisations we could speak to and find out further information and make donations. It was so much fun, I brought a whole bag full of brochures and leaflets home!

Then at lunch, I got to explore the campus with my friends. It was truly stunning, with a castle (which has a restaurant, library and sleeping quarters..etc), on-site convenience store, live music bar, modern accommodation buildings and so much more.  I'm heart-broken that the university doesn't do undergraduate medicine courses- or else I would definitely apply (although biomedical sciences look tempting too so we'll see...!)


Afterwards we all got the chance to use the massive labs and do experiments representing recessive and dominant genes, and whether the outcome "baby" would be affected, unaffected or a carrier of a rare disease. After that, we then got to go "speed dating" around different stations, where students spoke about their experience and university/ course information, as well as all the extra-curricular and other opportunities. This was a very helpful session, I found it so informative and persuasive!
We then split into groups and were given case studies to analyse of potential patients, and make or diagnosis. We ten went through the answers and reasoning (my group got it all correct!) and were given haribos as a prize. We then spoke to more students with any further questions, before departing the beautiful university to catch the train home.
I loved it and learnt so much, as well as making new friends.. and it was free! If you get the chance, definitely go to a rare disease day event near you (every February).

Events here
University here