Raising awareness on Rare Disease Day

8 Mar 2024, 12:04 p.m.

Adult helping a child in goggles with a pipette

Rare Disease Day is an international event which takes place annually on the last day of February, with the aim of increasing awareness about rare diseases and their influence on the lives of families living with these conditions.

At GOSH we research many rare diseases, such as cystinosis, cystic fibrosis, mucopolysaccharidosis, duchenne muscular dystrophy, gaucher disease, epidermolysis bullosa.

A disease is considered rare when it affects fewer than 1 in 2,000 people, and there are 300 million people worldwide are living with a rare disease.

To celebrate the day, around 40 researchers, scientists and GOSH staff had the opportunity to share their research with GOSH patients and their families who are part of the rare disease community.

The Lagoon café was transformed into a bustling engagement hub where budding scientists and their families could meet the people behind the research at GOSH, share their stories, and mark the day together.

Celebrating Rare Disease Day at GOSH

Visitors were invited to try out the 13 different hands-on and interactive fun and educational science and research activities for children and adults.

Activities on offer, included:

  • 'Paint your own take away 3D printed neural tube'. Meet the researchers working to understand how the brain develops in spina bifida.
  • 'Try out the stem cell puzzle'. Which cells are missing in Hirschsprung disease and how are researchers are trying to replace them?
  • 'Pituitary gland, puzzles and pipetting'. Learn about the pituitary gland and meet the researchers finding spelling mistakes in people’s genomes.
  • 'VheaRts'. Pop on a headset and be guided on a journey through the heart. Learn about research into rare cardiovascular disease and be shown 3D models of the heart.
  • 'Make your own DNA bracelet'. Hear about the different roles there are in research and meet a GOSH Young Persons’ Advisory (YPAG) Group for research member.
  • ‘Meet the North Thames Genomic Medicine Service team: play a game of DNA Top Trumps’. Find out how genomic sequencing is transforming rare disease care in the NHS.
  • Debra the Butterfly Skin Charity & GOSH Epidermolysis Bullosa (EB) Team. Meet the teams and learn more about the condition through picture books.
  • D-CYPHR : ‘DNA Heroes for Health’. Learn how DNA heroes can impact health research for everyone. Visit the D-CYPHR team and take part in fun DNA-based activities.
  • The Mini Laboratory: 'Spot the cell', 'Bubble Baby Disease', 'Take your turn at being a rare disease healthcare scientist', 'Muscles under the microscope' and 'try out a science kit'. Learn the difference between healthy and not so healthy cells and how your body defends itself against diseases. Learn how we help treat Bubble Baby Disease with gene therapy or bone marrow transplant. Study muscle tissue and learn about Juvenile dermatomyositis. Look at stem cells and learn about gene therapy.

The event was joined by GOSH Arts musician Bernard the Bear, therapy dog Poppy, GOSH Young People's Advisory Group for research (YPAG), and GOSH BRC Paediatric Excellence Initiative.

GOSH YPAG Member said: "It was my pleasure to help out at the stall. It was such a great learning experience, and I am glad that I could contribute to and get an insight into all the amazing work that goes on at GOSH."

Plans are in place to outreach our mini laboratory activities to students and teachers in GOSH school.

Acknowledgements

Thank you to all GOSH patients and families who attended and gave consent for photos to help raise awareness of rare diseases.

To all staff who gave their time on the day and everyone who planned engagement activities, including those behind the scenes staff for set up of our activity stalls.

Special thanks to GOSH Arts, GOSHCC and GOSH volunteers and GOSH YPAG.

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