Marking Rare Disease Day 2023

7 Mar 2023, 11 a.m.

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.

Toddler doing well after receiving newest gene therapy available on NHS

A toddler with a life-limiting and life-threatening rare disease is the youngest to be treated with the newest gene therapy available on the NHS at GOSH.

Genes may help to predict which children will respond well to arthritis treatment

A team of researchers at Great Ormond Street Hospital (GOSH) and University College London (UCL) have identified a set of genes that could be used to help doctors predict which children will respond well to treatment for juvenile idiopathic arthritis.

Making it easier to invest in frontline care

GOSH and UCL have signed a landmark agreement to simplify the commercialisation of any joint research and innovation and ensure any financial proceeds are shared equally.

Patients and public help create multilingual resources for expectant parents

A group of clinicians and researchers at GOSH have developed information about a test offered in pregnancy called prenatal sequencing in the UK’s 12 most common languages.