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Professor Francesco Muntoni A Professor of Paediatric Neurology, Professor Muntoni's area of interest includes the clinical molecular genetic and biochemical aspects of myotubular myopathy. He is also Scientific Advisor to the Myotubular Trust. Since the mid 1990's Professor Muntoni and his team based at the Hammersmith Hospital in the UK have played a key role in identifying the group of genes responsible for causing the congenital muscular dystrophies. Professor Muntoni now knows that there are more than a dozen forms of congenital muscular dystrophy and believes there are many more to be found. By identifying which genes cause the condition better, understanding into how it affects individual patients will be gained. 'In the last month alone one new gene and one chromosomal location of a new gene have been identified. We are also aware, through our network of European collaborators, that another gene has just been identified'. With so much good news the possibility of developing a treatment for congenital muscular dystrophy is now a real possibility. Professor Muntoni explains 'Our understanding of the disease has increased because we have identified common themes in protein defects. This has allowed us to start lab testing some hypotheses for treatments'. (Source: Target MD Magazine).
Alan Beggs PhD A human geneticist from Massachusetts, the principal investigator and driving force at the Beggs Laboratory. Dr Beggs oversees all the of the laboratories research and mentors all lab members. The doctors affiliated with Harvard Medical School are now considered the store house for information and research on CNM / MTM in the USA, they have over 300 people with different congenital myopathies involved in their Research Programme and more than 40 of those have CNM / MTM. Read more about research in the USA at the Joshua Frase Foundation. Read Newsletters from the Beggs Laboratory.
Congenital Myopathy Research Programme CNM / MTM is a very rare condition; to put this into perspective, Duchenne Muscular Dystrophy affects about 1 / 3500 male births or 1 in 7000 children born. In contrast, MTM and CNM are so rare that there are not good estimates of their incidence, a guess-timate would be somewhere in the range of 1 in 50,000 to 1 in 500,000, which makes it harder to study due to less financial support and fewer patients. Therefore, despite the challenge of trying to find participants with MTM and CNM, the more patients that can be found to be involved, the more likely researchers are to make progress. Although participation may not result in any direct benefit to the participant, it will help to pave the way to a time when treatment may be possible. While examining the muscle tissue of affected patients is an important part of their research, donating a muscle sample is NOT required of participants; they never ask participants to have a biopsy for the sole purpose of their research. Participation is completely voluntary and can be withdrawn by you at any time, so you never have to do anything that you do not want to do and although a blood draw is the conventional and preferred method by which to obtain DNA, this research laboratory allows it participants the option of donating saliva for DNA analysis. By testing saliva rather than blood, patients are able to take their own samples at home. Both my father and I have taken part in the research project and can report that it is easy and painless - easy to follow instructions are provided and all postage costs are paid.
Dr Heinz Jungbluth A Consultant and Senior Lecturer in Paediatric Neurology; his main interests concern the clinical, histopathological and molecular genetics of the congenital myopathies including Centronuclear Myopathy.
Professor Carina Wallgren-Pettersson Professor Carina Wallgren-Pettersson is a Clinician and Scientist specialising in Medical Genetics at the Department of Medical Genetics, University of Helsinki, Finland. Since 1984, her research has mainly concentrated on muscle disorders, including a special interest in Myotubular Myopathy.
Dr Adnan Manzur Consultant in Neuromuscular Paedatrics, interested in diagnostic and management aspects of Myotubular Myopathy.
Dr Valerie Biancalana A doctor in Human Genetics involved in molecular diagnosis of Myotubular Myopathy.
Professor Enrico Bertini Director of the Laboratory of Molecular Medicine in a research Paediatric in Rome, Professor Bertini's area of interest includes the clinical, molecular genetic and biochemical aspects of Myotubular Myopathy. He is also a member of the Research Committee on ENMC (European Neuromuscular Centre).
Professor Angus Clarke Professor Clarke's research interests are in gene mapping of Myotubular Myopathy. His clinical interest is in genetic counselling and carrier testing for neuromuscalr disorders.
Professor Michael Clague A Professor of Physiology, Professor Michael Clague is interested in understanding the cell biological functions of the Myotubularin gene which is mutated in Myotubular Myopathy.
Dr Anna Buj-Bello Doctor Buj-Bello's area of interest includes the molecular mechanisms and therapeutics of Myotubular Myopathy.
Dr Jocelyn Laporte A full time researchers on Centronuclear / Myotubular Myopathies: gentic basis (gene identification), molecular diagnosis, physiopathology and therapeutic approaches.
Professor Antonio Musaro Based in the Department of Histology and Medical Embryology, Univeristy of Rome 'La Sapienza'. Professor Musaro and his team study mediators of anabolic pathways in skeletal muscel cells of Myotubular Myopathy.
Professor Caroline Sewry A Professor of Muscle Pathology, Professor Sewry works with Professors Muntoni and Dubowitz on Myotubular Myopathy and also Dr Ros Quinlivan at Oswestry.
Dr Anita Simonds A Consultant in Respiratory Medicine at Royal Brompton Hospital, London. Dr Anita Simonds' areas of clinical and research interest include respiratory disorders in children and adults with neuromuscular conditions including Myotubular Myopathy, sleep studies and ventilator support, home respirator care and ethical issues.
Dr Meriel McEntagart A Consultant in Clinical Genetics with a special interest in the genetic causes of neurological disorders. Dr McEntagart carried out an analysis of the relatinship of the type of change identified in the Myotubular Myopathy gene with the severity of the condition in over 100 boys from Europe and the United States of America that were affected by the disorder.
Professor Victor Dubowitz A graduate of Cape Town University, Professor Dubowitz was appointed to the Chair of Paediatrics at Hammersmith Hospital and established a very active clinical and research centre for muscel diseases. He has written several text books, he is the founding Editor of the Journal of Neuromuscular Disorders, foundation President of the World Muscular Society and Founding Patron of the Myotubular Trust. Although officially retired, he still actively pursues his muscle research interests.
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