The Robert Jones and Agnes Hunt Orthopaedic Hospital ran its first families clinic this week as part of the 100,000 Genomes Project – a Government funded programme using genetics to help improve knowledge and treatment of rare diseases.

The Oswestry-based hospital signed up to join the project at the end of last year, which is led regionally by the West Midlands Genomic Medicine Centre. Samples of DNA are taken from consenting patients which are then sequenced to look for genes related to diseases such as muscular dystrophy.

Scientists and medical professionals can then use this information to further their understanding of rare conditions. Some patients may get diagnoses where there previously wasn’t one as well as the potential for individually targeted therapies.

Paediatric Neuromuscular Consultant Dr Tracey Willis is the lead on the 100,000 Genomes Project for RJAH. She said: “I started working with the scheme about a year ago when we started referring patients that had gone through a lot of tests and not got a diagnosis.

“This project seemed like the next logical step. It’s quite exciting because it has a specific section for neuromuscular conditions which we treat here. That means potentially we can get an answer for those patients, or at least rule more things out.

“Genomics is probably going to be the way forward in exploring a number of diseases. In years to come a patient will come here for treatment and give DNA samples as a normal procedure. But we aren’t there yet.” Read more

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