The Robert Jones and Agnes Hunt Orthopaedic Hospital 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.

The Orthopaedic's Neuromuscular team and Sarcoma team between them have managed to recruit 180 patients and submit their samples.

The 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.

The Orthopaedic signed up to join the project in 2016 and ran its first families clinic last year.

Speaking ahead of the first family clinic of 2018, Dr Tracey Willis, paediatric neuromuscular consultant, who is the lead on the project, said: “I’m thrilled with the Trust’s overall performance as part of the 100,000 Genomes Project.

“I’ve found that our monthly family clinics really help with the numbers we’re seeing, for example if we saw 36 families over say three clinics, that could potentially mean more than 100 patients in total.

“I’m proud to be part of the project here at the Orthopaedic because it means potentially we can get an answer for those patients who haven’t been diagnosed yet, or at the very least rule more conditions out.”

The regional ambassador for the Project, Dr Christopher Clowes, has praised the Trust for its performance.

He said: “The teams’ contributions to the 100,000 Genomes Project have been outstanding so far and given the planned activity, it looks as though the only direction the Trust will move in is up.

“I’d like to congratulate all who have been involved in the project at the Orthopaedic. This fantastic number puts the Trust at the top of the list among those Trusts who were introduced in the third phase of the West Midlands rollout of the project.”

The Jones family from Shawbury were one of the first families through the door of the clinic.

Parents Nia and Simon are trying to find out what conditions daughters Katie, 14, and Naomi, seven, are suffering from.

The whole family gave samples so that hereditary factors can be taken into account.

Nia said: “We did think they had something hereditary but we were also told they might have Charcot-Marie-Tooth disease. They both struggle with their limbs, particularly Naomi, and we’ve been told that the signals prompting their muscles to contract are weaker and slower to reach the brain.

“We’re starting to see Katie gradually getting worse from it, which is why we want answers and to get to the bottom of this, which is why we’ve come along to the clinic.”