Last weekend’s get together for our missionees, charity volunteers and top mitochondrial researcher Professor Kostas Tokatlidis truly showed the value of bringing patients and professionals together. Not only did it give those impacted by mitochondrial disease the chance to hear about developments in research, it also bought an unexpected and amazing result.

Professor Tokatlidis has studied a key mitochondrial protein called GFER for 15 years. GFER is one of almost 1500 genes linked to mitochondrial disease. The condition associated with GFER mutations is extremely rare, but one which potentially has wide implications for progress across mitochondrial function as a whole. Just a handful of families in the world are affected by this gene fault – with just one family in the UK to the scientist’s knowledge, none of whom were known to him.

Eddie Wall, who runs his Mito Mission in Leeds took the opportunity to speak with Professor Tokatlidis on Saturday evening. Through this chat, it was discovered that Eddie and his brother John are that very family.

‘It’s both an incredible coincidence and extremely exciting that I have connected with Eddie and his family’, said the Professor. ‘To be able to work directly with a patient has the potential to significantly advance our research and showcases how we can work together to maximise patient involvement and engagement in a very meaningful and impactful manner.’ Whilst Eddie added, ‘Research is hope to mito patients. I’ve wanted to play as big a role as I can for a long time and to have this opportunity occur is amazing. And on my birthday too!’

We are beyond thrilled that our first ever My Mito Meet-Up bought about this incredible connection which has the potential to advance mito research – something which brings hope to everyone impacted by mitochondrial disease.