12th Neuromuscular Translational Research Conference

The Wellcome Centre for Mitochondrial Research was well represented at the 12th Neuromuscular Translational Research Conference that took place at the Centre for Life in Newcastle last week.  Over 30 members of the WCMR team, which included PhD students, research associates, clinicians, nurses, physiotherapists, clinical trial managers and our engagement manager, took the short walk across the city to hear a wide range of high-quality scientific research into several different neuromuscular conditions, including mitochondrial disease.

The 2-day conference was divided into 4 separate sessions that covered different themes, with 2 sessions taking place each day. Closer inspection of the conference programme revealed that a member of the WCMR team was presenting their research in every session, which highlights the breadth of research taking place within the Centre. Session one saw Dr Angela Pyle (pictured below), who is a Senior Research Associate in the WCMR, present her research investigating the clinical features of patients with TANGO2 mutations after being selected for a platform presentation from the 120 abstracts submitted to the conference.  This was followed in session two with a presentation by our very own Centre Director Prof Sir Doug Turnbull, who talked about clinical services for neuromuscular patients in the UK.

Day one of the conference also saw a guided poster session for all abstracts related to mitochondrial disease that were selected for a poster presentation. The mitochondrial category had the highest number of posters of all the neuromuscular conditions represented at the conference, and we were delighted that 16 out of the 23 posters within this category were by the WCMR team! These posters covered many different aspects of mitochondrial disease, from clinical presentation of mitochondrial disease through to high-throughput screening to identify possible therapies and clinical trials taking place within the WCMR. The guided poster session was led by Dr Grainne Gorman and Dr Rob Pitceathly and involved the authors of each poster presenting a summary of their work in around 2-3 minutes, with time for questions afterwards.

Day two of the conference saw a session chaired by Prof Rob Taylor and Dr Rob Pitceathly that included 10 flash poster presentations selected from the best poster abstracts submitted to the conference. We were very proud that this included 2 members of the WCMR team, with flash presentations given by both Dr Monika Olahova on mutations in a gene called POLMRT associated with mitochondrial disease, and Dr Emma Blakely who talked about preventing transmission of mitochondrial DNA disease by preimplantation genetic diagnosis.

The final session of the conference was chaired by Prof Bobby McFarland and Dr Julianne Mueller and was dedicated to mitochondrial disease. The session included 2 presentations on mitochondrial donation that were given by WCMR team members Prof Mary Herbert and Dr Grainne Gorman. Prof Herbert talked about the scientific development of mitochondrial donation to prevent transmission of mitochondrial DNA disease, whilst Dr Gorman talked about the clinical application of mitochondrial donation and the innovative clinical service set up by the WCMR team to provide patients with accurate information when considering their reproductive options.

The conference was a fantastic opportunity for the WCMR to showcase the level of translational research that is performed within the Centre, and it was great that so many of our multidisciplinary team were able to attend. We were also delighted that Dr Julie Murphy, Engagement Manager within the WCMR, and Dr Lyndsey Butterworth, who leads on Science Communication for the WCMR and The Lily Foundation (both pictured), were awarded a poster prize!  The title of their poster was ‘Engaging Patients with Mitochondrial Disease to Improve Decision Making – Team Work makes the Dream Work!’ and it described a number of patient engagement initiatives that have taken place within the WCMR. This is great recognition of the importance of patient engagement, and reflects our commitment to improve the lives of those affected by mitochondrial disease.