Millions of children with rare diseases set to benefit from faster diagnosis and better treatments

A new initiative promises faster diagnoses and improved treatments for children living with rare diseases across the UK.

The KidsRare platform will provide researchers with access to data from various hospitals on young patients with rare conditions.

It is being developed by Great Ormond Street Hospital (Gosh) and LifeArc, in collaboration with the Children’s Hospital Alliance (CHA).

Organising this information is hoped to lead to more breakthroughs in diagnosing and treating rare conditions, which are estimated to affect over three million people nationwide.

Dr Sam Barrell, chief executive of LifeArc, said: “Thousands of children are diagnosed every year with a rare disease, and the vast majority currently have little hope of a treatment, let alone a cure.

“Key to changing this stark reality is harnessing the comprehensive data we have in our amazing NHS hospitals to turbocharge research and position the UK as a global leader in rare disease research and care.

“We need to act today to transform the system for the millions of people living with a rare disease.”

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 accelerate innovation and improve outcomes for children with a rare disease.”

Francesca Granata-Tyler, who lives in Kent, welcomed the initiative.

Her daughter Lucia, now 11, was diagnosed with the rare hao fountain syndrome when she was nine, despite her parents knowing something “wasn’t quite right” from birth.

Mrs Granata-Tyler said: “They had been able to make the diagnosis because they had access to more data. Knowing the name of the condition allowed us to speak to other families about their experience, to build a community of support and prepare for the future.

“Having this data made this possible, and we want this for more families living with a rare disease.

“Children need the best start in life and getting a diagnosis sooner means having more knowledge, and maybe, in the future, it could help lead to new treatments. The KidsRare initiative could really change so many lives.”

KidsRare builds on work carried out by the Gosh and CHA Drive (data research, innovation and virtual environments) unit.