Dr James Dowling of Sick Kids, Toronto, Canada has been a recipient of grants from the Myotubular Trust in both 2014 and 2015 to research a potential treatment for myotubular myopathy. Dr Dowling has been working on proving the effect of reducing levels of the phosphoinositide called PI(3)P on reducing the symptoms of myotubular myopathy. Results to date are very encouraging and this was work published in the high impact journal, JCI The Journal of Clinical Investigations, in August 2016.
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NEWS & UPDATES
- Batmen and Robin Triumph In The 100K Ultra Challenge from London to BrightonJune 12, 2019Massive congratulations and thanks to university friends, Phil Brunetti, Craig Strachan and Naeem Ghulamali who recently walked the 100km Ultra […]
- Joint research call with the world renowned Great Ormond Street Hospital Charity, and SparksJune 3, 2019Great Ormond Street Hospital Charity and Sparks have announced a national funding call in child health research in 2019/20. Under this funding call […]
- Another innovative approach to treatment for centronuclear and myotubular myopathy from the laboratory of Jocelyn Laporte at IGBMCMay 16, 2019In this study, the researchers found that increasing the level of BIN1 (Amphiphysin 2) rescues myotubular myopathy resulting from a MTM1 defect, in […]
- Jennie’s First MarathonMay 14, 2019Massive congratulations to our long term supporter, Jennie May, who completed the Milton Keynes marathon on 6th May. Jennie ran the marathon, her […]
- Audentes Therapeutics presents the latest positive data from ASPIRO, their gene therapy clinical trial for x-linked myotubular myopathyMay 7, 2019Today, 1st May, at a meeting of the American Society of Gene and Cell Therapy, Audentes announced new positive data from ASPIRO their Phase1/2 […]