The National Institute for Health and Care Research (NIHR) and the Medical Research Council (MRC) are investing £14 million in a new research programme to investigate challenges in the diagnosis, management and treatment of rare diseases.
Marking the annual Rare Disease Day on 28 February, this article examines how developments in genomics and healthcare are leading to the diagnosis of many rare diseases and helping to pinpoint the care individual patients need.
On 13 December 2022 the UK government announced a programme of funding for genomic research, including £105 million for diagnosis of rare genetic diseases in newborns, plus funding to improve the accuracy and speed of cancer diagnosis, and support for new technologies across the health and care system.
