GOSH to connect health data for rare disease research

Great Ormond Street Hospital for Children NHS Foundation Trust (GOSH) is partnering with charity LifeArc to connect health data which could help advance rare disease research.

Rare disease health data is often fragmented and disconnected due to small numbers living with the conditions, which can hold back research.

The partnership will set up KidsRare, an initiative to help deliver more tests and treatments for children living with rare disease.

It aims to drive the secure use of health data to develop insights and breakthroughs that could boost rare disease research and help the thousands of children diagnosed with rare diseases every year in the UK.

Professor Neil Sebire, chief research information officer at GOSH, said, “Harnessing paediatric specialist data is pivotal for rare disease research.

“Collaboration is key to securely transform data that is locked in multiple, unconnected locations into insights that accelerates innovation and improve outcomes for children with rare disease.”

The programme will allow researchers to harness the potential of high-quality health data sets that exist across different UK hospitals for children and young people in the UK living with rare disease.

Connecting data in this way makes it possible to generate insights and breakthroughs based on what health data is saying about a patient, which can improve diagnosis, treatment and care.

According to GOSH, there are more than three million people in the UK living with a rare disease with around 70% of those diseases affecting children. Currently, 95% of rare diseases have no approved treatments.

It hopes that the health data resource will make the UK a go-to for innovation and research in rare diseases which affect more than 300 million people around the world.

The initiative builds on work already undertaken by the GOSH and the Children’s Hospital Alliance through the GOSH Data Research, Innovation and Virtual Environments (GOSH DRIVE) unit.

The trust says it follows high standards of data security and only approved researchers are able to access the anonymised health data.

Meanwhile, the government this month granted approval for UK Biobank researchers to access coded GP patient data for research purposes, allowing more insight into health conditions such as arthritis, dementia, depression, eczema, heart failure and impaired hearing or vision.

In November 2024, an independent review by Professor Cathie Sudlow, then chief scientist of Health Data Research UK, called for barriers to accessing NHS patient data to be removed so that it can be used for research to further medical advances.