Rare Disease Day
  • Enrichment
  • Science
  • Sixth Form
  • STEM

On Friday 26th February, the Lower Sixth Biology students had the incredible opportunity of taking part in a virtual study day – ‘Rare Disease Day’, by Royal Holloway University of London. The day consisted of live talks, hands-on practicals and a ‘speed dating’ session.


Royal Holloway’s main objective of the day was to raise awareness amongst the general public and decision-makers about rare disease and for us, as L6 Biologist’s it was a fascinating day covering aspects of our A level course that we had previously studied but also enriching things that were outside of the curriculum. It was eye-opening to hear about the prevalence of rare diseases - I did not know that 30% of people die with a rare disease before their 5th birthday and that rare diseases affect up to 7% of the population.


The two lectures of the day were fascinating. We heard from Baroness Nicola Blackwood about her diagnosis journey- which really demonstrated how lengthy and gruelling the process can be as well as the importance of research in genomics to find new treatment for rare disease and end the diagnostic odyssey. We also heard from Professor Alan Parker, a Professor of Translational Virotherapies from Cardiff University about ‘how to train your virus’ and about his work with oncolytic viruses (ones that kill cancer cells) and virotherapy- a treatment using biotechnology to reprogramme viruses to treat disease.


My favourite part of the day was the ‘lab activity’ where we conducted two practicals to investigate X-linked recessive inheritance, this was led by Dr Katie Llyod-Jones from Royal Holloway University of London. One of the practicals we investigated was ‘What is the probability of a mother (who is a carrier of an X-linked recessive disorder) passing the affected allele to her children?’. These practicals were amazing and Royal Holloway provided us with all the lab equipment- which was incredible. It was great to get some hands-on experience doing practical experiments again after being away from the labs for a while now.


After the practicals, we listened to a few exhibition presentations - my personal favourites were Ceridwen Hughes from Same but Different and the presentation from the British Society for Gene and Cell Therapy. Ceridwen displayed the charity’s creative approach to rare disease awareness by showing us the photography of people with rare diseases- they use these photos to empower those with rare disease, to encourage people not to pre-judge them, see beyond the rare disease and rather to get to know them by reading the stories attached to the photos.


This was then followed by a Nurse-led innovation for ‘An augmented reality game for young people with lifelong conditions, Roald Dahl’s Marvellous Children’s Charity, Story Futures and Play Well For Life’. I most enjoyed hearing about the game-based learning, I found this rather fascinating about how they integrate things like goal setting, managing failure, pushing boundaries and comfort zones and transferable skill development all through games.


We ended the day’s sessions with a speed dating session where we heard about life of a bioscience student, laboratory practicals and student life at Royal Holloway University of London.


Thank you to the entire Biology Department who supervised us throughout the day and in particular, thank you to Mrs Lenox-Smith for organising our participation in the event and for giving us this incredible opportunity!

By Avani (L6B)
 

  • LEH Biology