| 15.9.11 Myotubular Trust Announces A Fourth Call To Grant Application |
We are delighted to announce a fourth Call to Application. We are looking to fund further projects that will help find a cure and/or a treatment for any of the three types of myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources. Our fourth Call will be open to research bodies internationally. To date, we have awarded research grants / fellowships for the following projects:
In particular we would like to encourage the application of new technologies to research into myotubular myopathy, which may involve collaboration between different medical disciplines and / or different research institutions. We are also willing to consider applications which involve joint funding with other organisations. Please see our Research Programme & Grants Information Page to read more and download an application form. |
| 19.8.11 Two Further Research Grants Funded by Myotubular Trust in 2011 |
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. |
| 29.7.11 Calling All Patients Who Don't Have A Genetic Diagnosis For MTM/CNM. |
Title of study : Next generation sequencing to identify novel genes implicated in centronuclear myopathies and other congenital myopathies Purpose of Study: For any disease or condition and including the Myotubular and Centronuclear Myopathies, the identification of the mutation is the most important first step for genetic counseling and therapies. Over recent years, there has been a discovery of several genes causing Myotubular and Centronuclear Myopathy, including MTM1, DNM2, BIN, however, the causative mutations in half of patients are still unknown. This project, funded by Myotubular Trust, uses a new "high-throughput" gene sequencing approach and aims to help patients who have not been able to find out which genes have caused their form of centronuclear myopathy to identify the exact mutation. The project, which will be run by Dr Jocelyn Laporte, Dr Johann Böhm and colleagues in the department of Translational Medicine at IGBMC in France, will use next generation sequencing to identify novel genes implicated in centronuclear myopathies. Knowing the exact mutation has many benefits, including the first step to providing accurate genetic counseling, to improve health care and disease management and to identify novel drug targets that may be more accessible for therapeutic development. This knowledge is often required for the inclusion into specific clinical trials. Because the patient testing will form part of this important research project, it is being offered free of charge for any patient who wishes to find out their mutation, but on the basis that the researchers cannot guarantee a positive result or time frame. So to summarize:
Eligibility (Inclusion/Exclusion criteria) People who have a diagnosis of centronuclear myopathy and have no confirmed genetic diagnosis are candidates to participate in this study. The analysis is proposed to patients for whom mutations in known genes has been excluded. Travel Arrangements: No direct travel is necessary. Sending in a DNA sample is required. Contact the investigator for a collection kit and details. Contact Information: Dr. Johann Böhm Phone : 33 (0)388653415 (office) Download a Consent Form (in pdf) or Consent Form (in word doc) |
| 10.7.11 Myotubular Trust European Family Conference, London |
"How come I don't feel so alone any more? Simple - I met so many wonderful professionals, families and friends yesterday at the Myotubular Trust European Conference in London." Read more about our 2011 Family Conference. |
| 7.10.10 Myotubular Trust Announces A Third Call To Grant Application |
To date, we have awarded research grants / fellowships for the following European projects:
In particular we would like to encourage the application of new technologies to research into myotubular myopathy, which may involve collaboration between different medical disciplines and / or different research institutions. We are also willing to consider applications which involve joint funding with other organisations. Please see our Research Programme & Grants Information Page to read more and download an application form. |
| 4.10.10 Faster Diagnostic Testing for UK Patients |
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| 8.9.10 A Third New Research Grant Is Awarded By Myotubular Trust |
The characteristic feature of centronuclear and myotubular myopathy is the abnormal presence of the nucleus in the centre of the muscle cell instead of at the edge. What causes this centralisation of the nucleus or its relationship with the absence of myotubularin is not understood and it is this question which Dr D'Alessandro's research will address. She will be investigating how the different genes already implicated in centronuclear and myotubular myopathy interact with each other to instruct the muscle cell on where to position the nucleus. She will also investigate other genes known to be involved in the process of nuclear positioning and see how they act together too. If this 'molecular pathway' of genetic instructions, and exactly how this pathway causes centralisation of the muscle cell nucleus, could be better understood, it is likely to shed valuable light on the condition and possible future treatments. Dr D'Alessandro also hopes to identify new genes involved in positioning the nucleus and such genes may be appropriate as novel therapeutic targets to treat the symptoms of centronuclear and myotubular myopathy. View the full lay report on this latest research grant. Three Complementary Myotubular Trust Research Projects By making this new grant to Dr D’Alessandro, the Myotubular Trust is now funding three complimentary areas of research and collectively, these grants use three of the available animal models to help in the research and investigation of the disease for better understanding. They address a number of the scientific questions most likely to lead to a therapeutic strategy to treat centronuclear and myotubular myopathy The three areas of research we are funding now cover: |
| 8.9.10 Interesting Findings In Dr Piercy's Research Project |
Dr Richard Piercy, whose work on the structural studies of myotubular and centronuclear myopathy muscles was funded by the Myotubular Trust last year, has recently presented some of his findings to the International Congress on Neuromuscular Diseases in Naples. You can read a short lay description from Dr Piercy of the progress his research is making here. |
| 8.9.10 Model for X-Linked Myotubular Myopathy Found |
Dr Anna Buj Bello, whose work we are supporting at INSERM in France, has, in collaboration with other leading international researchers, been involved in a major development in identifying a model for x-linked myotubular myopathy and has very positive implications for future research. You can read the full published article here. |
| 18.9.09 A Second Call To Project |
We anticipate making awards in April 2010. We are looking to fund further projects that will help find a cure and / or a treatment for any of the three types of myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources. This call will be open to European research bodies only. More.... |
| 10.9.09 Two New Research Projects Funded |
The Myotubular Trust has now funded two research projects to address this important question from two different angles. The first project, which will be run by Dr Richard Piercy, a Vet at The Royal Veterinary College, will try and understand what aspect of muscle function has stopped working properly in these muscle diseases. The second project, which will be run by Dr Anna Buj-Bello at INSERM, a French laboratory, will try a variety of therapeutic ‘rescue’ approaches such as gene therapy and drug administration.The research output from both of these projects is likely to suggest therapeutic strategies to treat MTM patients of all ages. More... |
| 10.9.09 A Better Understanding About Research |
Parents can often be intimidated by the medical jargon associated with a child's health condition but Dr Juliet A Ellis has kindly offered to help extend the work of the Myotubular Trust by providing affected families, carers and individuals themselves with simpler explanations about the European research taking place, helping us to achieve a better understanding of the possibilities of research and the language sometimes used by our doctors. More.... |
| 10.9.09 Our Grant Funding Process Explained |
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