Hundreds of seriously ill patients in the UK suffering from undiagnosed conditions have had the underlying genetic causes pinpointed by a groundbreaking project, which scientists believe will cut the cost to the NHS of treating rare diseases and improve patient care.
First scientific results from the 100,000 Genomes Project, a £300m five-year initiative funded mainly by the UK government, were published in the New England Journal of Medicine on Wednesday.
Whole genome sequencing — reading all 3bn biochemical letters of each individual’s genetic code — made it possible to diagnose the underlying cause of rare diseases in 535 patients from the 2,183 families who participated in the early stages of the project.
您已阅读21%（716字），剩余79%（2742字）包含更多重要信息，订阅以继续探索完整内容，并享受更多专属服务。