https://www.gosh.nhs.uk/news/marking-rare-disease-day-2023/

Marking Rare Disease Day 2023

7 Mar 2023, 11 a.m.

A small girl, with blonde hair in pigtails and with a nasal tube, listens to two scientists talking about DNA

Rare Disease Day is a global event that aims to raise awareness and generate change for those living with rare diseases. At GOSH, many of our patients and families are part of the rare disease community and so this year we were delighted to mark the day with an in-person family event in our hospital canteen – the Lagoon.

Our event gave patients and their families the opportunity to meet staff from across the hospital while taking part in fun activities all aiming to raise awareness of just some of the fantastic research that happens at GOSH. It was a wonderful opportunity for staff, including those not in traditionally patient facing roles, to meet with families – to share stories and mark the day together.

A small boy, wearing a light brown teddy bear jumper, plays with a purple and orange beaded bracelet on his left wrist

Patient and Public Research engagement

The 3-hour event, allowed visitors to the Lagoon to join in with our fun and interactive research activities:

- VheaRts technology - learning how heart surgery is being revolutionised for patients, clinicians, and students alike using Virtual Reality technology.

- DNA Discoveries – a fun way to highlight all of the amazing DNA Discoveries through a game of top trumps

- Colour your own 3D printed neural tube – researchers working to understand how the brain develops in spina bifida brought along 3D printed models of the developing neural tube for patients and families to colour in!

- Make your own DNA bracelets – a chance to learn about your dominant and recessive genes using bracelet beads!

- A Moment of Discovery quiz – matching amazing research images with their descriptions to win a prize!

There was also the opportunity to sign up to become a Foundation Trust Member and take away information on GOSH Sample Bank.

Photo collage. 1: girl wearing glasses and a pink hoodie holds up a coloured 3D printed brain. 2: girl in a pink coat and yellow hat holds a coloured 3D printed brain. 3: child wears a rainbow coat and a VR headset while a man in an orange jumper crouches next to her. 4: boy in a black coat stands in front of a GOSH Charity sign holding a teddy bear and a sign that reads “#ShowYourRare for Rare Disease Day 2023, proud to be rare”. 5: DNA Discoveries game sits on top of a set of the top trumps cards. 6: two nurses wearing their blue uniforms sit opposite each other smiling and making bracelets

Thank you to all the research staff and GOSH Young Persons’ Advisory Group for research (YPAG) representatives who took part in leading activities.

Thank you to Genomics England who supplied the DNA Discoveries card game.

A series of images of a developing neural tube. The first is an eye-catching microscopy image coloured in bright blues, pinks and greens. The next three are the same neural tube 3D printed and coloured in. One in green and red, another in blue yellow and red and the final one centred with a blue spotty colour and surrounded by red-orange.

Help pioneer new treatments for millions of people this DNA Day

DNA Day is coming up this Thursday (25 April) and the team behind the DNA, Children + Young People’s Health Resource (D-CYPHR) are encouraging children and young people to contribute to important health research.

New cheek swab test helping to monitor children with rare heart condition

A cheap and simple test, being developed with funding from the British Heart Foundation (BHF), will allow quick and safe monitoring in children with arrhythmogenic cardiomyopathies (ACM).

New study finds that nasal cells protect against Covid-19 in children

New research shows that children are less likely than adults to develop severe COVID because cells in their nose are better at fighting off the virus.

New plan announced to get more children access to gene therapy treatments

Great Ormond Street Hospital (GOSH) has announced plans to revolutionise how children living with a rare disease can gain access to life-changing treatments.