The countdown to Rare Disease Day 2025 is on!

• A rare condition is a condition that affects fewer than 1 in 2,000 people
• Rare conditions are individually rare but collectively common, with over 3.5 million people in the UK living with a rare condition
• 1 in 17 people are affected by a rare condition at some point in their lives
• 7 in 10 rare conditions affect children
• All childhood cancers are rare
• 8 out 10 rare diseases are caused by changes in a person’s genetic code

Sources: https://www.cancerresearchuk.org/health-professional/cancer-statistics/childrens-cancers , Facts and figures - Genetic Alliance

80% of rare diseases are genetic, so improving access to genomic testing is instrumental for the rare disease community. Our Rare and Inherited Disease Lab, which is part of the North Thames Genomics Medicine Service (GMS), plays a pivotal role in genomic testing from conception to adulthood.

In 2023/2024 the North Thames Genomic Medicine Service team delivered almost 50,000 rare disease reports, giving patients and their families as much information as possible.

The field of genomic testing is constantly evolving, and the GMS works to bring cutting edge technology and new testing programmes to the NHS. The Generation Study is the next step in rare disease genomic research, giving families access to genetic testing for 200 treatable rare conditions before symptoms appear.

Due to small numbers of people affected by each rare disease, they are of often less well understood, with little prior research or data to build upon for advancement in treatments.

Research and Innovation is a big part of everything we do at GOSH. We have the widest range of specialised services on one site in the UK and by connecting these specialist clinical teams with scientists and data experts, we’re able to deliver cutting-edge research and have over 900 active research projects.

People with rare diseases often have complex care plans and so it’s important that our digital systems are able to support secure data sharing between multiple teams. Hosted by our dedicated innovation hub (GOSH DRIVE), our secure Data Research Environment allows us to analyse complex data sets to detect patterns in rare disease cases that may otherwise be missed.

While all childhood cancers are considered rare, more than 5 children are diagnosed with cancer every day. We are committed to doing all we can to provide the very best care and treatment now and to develop new, kinder and more effective treatments in future.

We are excited that with support from GOSH Children’s Charity, we are currently building a brand-new Children’s Cancer Centre. The centre will provide a bigger home for cancer services, extra space for theatres, imaging and critical care services, as well as a new entrance and hospital school.

The new space will also mean children receive care in an environment where they can play, continue with school and be with friends and family.

1. Make sure you are following us on social media, so you don’t miss any of our stories and events! Tag us and use the hashtag #RareDiseaseDay to share your stories.
2. Read up on our plans for the Children’s Cancer Centre and the Build it. Beat it. campaign Children's Cancer Centre | Great Ormond Street Hospital
3. If you’re a clinician, find out more about ordering genetic testing https://norththamesgenomics.nhs.uk/for-healthcare-professionals/
4. Learn more about what it means to part of our Intelligent Research Hospital https://www.gosh.nhs.uk/our-research/research-and-innovation/