News and stories

The latest Action Plan to implement the UK Rare Diseases Framework in England is out today. Minister Ashley Dalton, Parliamentary Under Secretary of State for Health and Social Care, introduced the paper on Tuesday at the Rare Disease Day Westminster reception. As at last year’s event the minister praised Genetic Alliance UK and our members for the advice and support we have provided to this plan’s delivery. The minister also spent time before her speech meeting many of our members and people living with rare conditions.

NICE publishes first quality standard to improve care for people with rare conditions

After a decade of unanswered questions, Janet finally discovered she has Laryngeal mucous membrane plasmacytosis – a condition so rare she can no longer eat and survives entirely on intravenous nutrition. Through career changes, adapting daily life, and finding new passions, she’s built a life beyond her diagnosis. This is Janet's story.

Genetic Alliance UK supported LifeArc to launch the Accelerating R&D (research and development) for rare disease in the UK report.

In 2020, Celine Lewis, a behavioural scientist who previously worked at Genetic Alliance UK, embarked on a project to look at the delivery of whole genome sequencing in the NHS (the Genomic Medicine Service, or GMS). The focus was on how well the GMS is working in the diagnosis of rare diseases in children in England. It examined how the new service was rolled out, how prepared healthcare professionals felt, communication practices, parents’ experiences, and psychological impacts. Here she explains some of the work she and her team conducted and the key findings.

We’re pleased to share Genetic Alliance UK's new policy report, 'Time to Decide: Learning from international approaches to newborn screening decision-making'

Rosie was born in April 2022, and for the first 16 weeks things her family lived in their "new family unit" bubble. Rosie's mum shares what happened next.

Bex is mum to 6-year-old Jackson, the youngest of three boys. Jackson has a genetic/neurological condition so rare they have yet to find a name for it. This means Jackson has complex medical, physical, and learning disabilities.

This is Lucy's story which was written about her son who lives with 22Q11.21 Micro Duplication. The story was submitted as part of ‘More than you can imagine: an anthology of rare experiences‘, created for Rare Disease Day 2025.

This is Alan's short story which was submitted to ‘More than you can imagine: an anthology of rare experiences‘, created for Rare Disease Day 2025. It discusses experiences of living with Poland syndrome.

Jonathan's submission to 'More than you can imagine: an anthology of rare experiences', created for Rare Disease Day 2025