Congratulations to Dr Rubina Aktar for successfully passing her exams to become a fully fledged PhD. Her project, examining TNX and gut function has delivered exciting results for management of patients with joint hypermobility and gut symptoms.

The project successfully secured funding from Bowel & Cancer Research in its November 2013 funding round to continue the programme of work that was undertaken during the proof-of-principal funding. In 2015 the Henry Smith Charity agreed to support the work, funding further investigation into the role of TNX and bowel dysfunction in Ehlers Danlos Syndrome.

In 2016 Ruby successfully passed her PhD and is detailing novel findings from the project in a manscript for the scientific journal GUT. Her main and novel findings were that Tenascin X is found around gut neuronal structures (relating to neurons) and a loss of the Tenascin X gene results in disordered function of the stomach as well as the colon. Patients without Tenascin X, experience symptoms such as increased reflux, abdominal pain and bloating.

Therefore the research has concluded that Tenascin X is important in gut function and could provide a useful target for the development of future therapies. This is particularly significant for people with joint hypermobility where TNX is related to this hypermobility. For now, patients with TNX deficiency can be better identified and their treatment better managed.

An MRC/Wellcome post doctoral fellowship application is now being prepared to enable Dr Aktar to continue these studies, and we wish the team well with this.