The Myotubular Trust is delighted to announce two new research grants which will make a fundamental contribution to our understanding of the condition and help us in our quest to find a cure.
The first will be run by Dr Jocelyn Laporte at the world renowned IGBMC laboratory in France (where the mtm1 gene was discovered in 1996.) They will use next generation gene sequencing technology to carry out ‘high throughput’ gene analysis, which it is hoped will lead to the discovery of the missing genes which cause centronuclear and myotubular myopathy. Finding these ‘other’ genes is important for two critical reasons – it will provide much better information for families about the gene that affects them, and should shed light on new drugs as possible therapeutic options. Read the Lay Summary of the research by Dr Jocelyn Laporte here.
The second project will be be led by Dr Marc Bitoun at INSERM in Paris where they will evaluate a new gene therapy technique as a possible cure for centronuclear myopathy. They will use trans-splicing to ‘cut and paste’ a working gene onto the faulty gene for dynamin 2 (one of the three genes currently implicated as a cause of cnm), and will carry the working gene using a virus as a vectors . This new gene therapy technology is a very exciting possible route to a cure as the ‘reprogrammed’ gene is under the direct control of the patient’s cells, and therefore less likely to be rejected by the body. Read the Lay Summary of the research by Dr Marc Bitoun here.