Words by Jade Williams
A new report has found that over 3.5 million people in the UK are living with rare diseases, while systemic failures continue to restrict progress in research and treatment efforts.
The study by LifeArc and Genetic Alliance UK urges the UK’s government, NHS, researchers, industry leaders, patient groups and policymakers to come together to overhaul rare disease R&D in the country.
The report, ‘Accelerating R&D for Rare Disease in the UK: An Opportunity to Change Millions of Lives’, outlines a series of recommendations aimed at attracting investment, removing barriers in R&D and ultimately improving the lives of those affected by rare conditions. As it stands, 95% of rare diseases lack effective treatment options.
“The challenges we face are clear – but so is the potential for meaningful change,” commented Dr Sam Barrell, CEO, LifeArc, in the report. “We can no longer wait for tomorrow. We must act today to demand better, to work together and to transform the system for the millions of people living with rare diseases.”
The release refers to a case study of a young boy who was diagnosed with a rare and life-limiting genetic disorder at the age of five. Although he now has access to a treatment via a compassionate use scheme, the drug was rejected by NICE, meaning his relatives live in fear of it being withdrawn. They hope the new report will lead to lasting change.
With the current UK Rare Disease Framework set to expire in 2026, the report’s proposals including overhauling approval pathways, improving data infrastructure and offering tailored support for innovators, come at a critical time for decision makers.
“Rare conditions are common, and the people who live with them deserve better,” said Nick Meade, Chief Executive, Genetic Alliance UK. “This report provides practical, evidence-based solutions to make that a reality.”
The report’s authors hope that the study will prompt immediate action and a long-term commitment to helping those affected by rare diseases, particularly those with limited or no treatment options.
