The National Institute for Health and Care Excellence (NICE) has published its first quality standard for rare diseases to speed up diagnosis and reduce gaps in care in England and Wales. The government has also published an action plan for rare diseases in England with new measures to tackle health inequalities. The plan highlights progress over the past year, including the commitment to Health Medicines Reform and the development of the Agency for the Treatment of Rare Diseases. It also includes a new NHS framework for individualized genetic therapies. Both documents are based on the UK Framework for Rare Diseases 2021. Rare diseases are defined as conditions affecting fewer than one in 2,000 people. There are more than 7,000 estimated rare diseases, meaning that approximately one in 17 people will be diagnosed with a rare disease in their lifetime.