In 2021, the UK Rare Diseases Framework was published to set out a vision for improving outcomes for people with rare diseases. The framework set out four priorities around delivering earlier diagnosis, increasing awareness among healthcare professionals, improving access to specialist treatment and providing co-ordinated care.

Since then, action plans for England have been developed to set out how the priorities in the Framework will be addressed. Key achievements in 2022 included identifying and returning over 1,000 new complex diagnoses for people with rare diseases to the NHS, and the recruitment of over 2,500 new volunteers to the National Institute for Health Research’s BioResource to increase specific understanding of rare diseases.  The latest action plan, published in February 2023, is prioritising actions to increase support for people with undiagnosed and non-genetic rare conditions, increase data sharing to improve patient access to clinical trials, and reducing the barriers to participate in clinical trials.

These commitments are supported by funding for ground-breaking research, including £790 million investment into Biomedical Research Centres and a £12 million UK Rare Disease Research Platform. Moving forward, the Government will continue to work closely with delivery partners and the rare disease community to monitor progress and drive change. I will continue to follow this issue closely.

Ehlers-Danlos Syndromes (EDS) and Hypermobility Spectrum Disorders can have a devastating impact on quality of life for those affected and raising awareness of these conditions is vital to delivering earlier diagnosis. I am grateful for the work of patient groups such as Ehlers-Danlos Support UK (EDS UK) and the Hypermobility Syndrome Association to support people living with these conditions.