The Robert Jones and Agnes Hunt Orthopaedic Hospital (RJAH), part of the West Midlands Genomic Medicine Centre (WMGMC), have enlisted nearly 200 patients as part of the 100,000 Genomes Project – a Government funded programme using genetics to help improve knowledge and treatment of rare diseases.
RJAH’s Neuromuscular team and Sarcoma team between them have managed to recruit 180 patients and submit their samples.
The 100,000 Genomes Project sees samples of DNA taken from consenting patients, which are then sequenced to look for genes relating to diseases such as muscular dystrophy and rare forms of cancer.
Scientists and medical professionals can then use this information to further their understanding of rare conditions. Some patients might get diagnoses where there previously wasn’t one, as well as the potential for individually targeted therapies.
RJAH signed up to join the project in 2016 and ran its first families clinic last year.