The Information Point for Centronuclear and Myotubular Myopathy
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- About the appeal
- About The Information Point for Centronuclear and Myotubular Myopathy
- Contact The Information Point for Centronuclear and Myotubular Myopathy
About the appeal
To celebrate our 10th year the Information Point has created a Mosaic Appeal to raise funds for research into centronuclear and myotubular myopathy and to provide help to members of our community. Listed below are some items we hope the appeal money could fund.* If £100 was raised this would fund glassware and measuring cylinders to equip a research lab working on centronuclear myopathies.
* If £500 was raised this would fund a set of pipettes for a researcher to work on centronuclear myopathies.
* If £1,500 was raised this would fund a dedicated computer and softwares for bioinformatic studies to identify the genetic causes of centronuclear myopathies.
* If £2,500 was raised this would cover a undergraduate student to work on the mechanisms and treatment of centronuclear myopathies for 6 months.
* If £3,600 was raised this would fund one year of a three year PHD project for genetic investigation of CNM with associated heart involvement, for a small group of CNM patients whose genetic basis is currently unknown (total cost for three years would be £10,800).
* If £4,000 was raised this would fund a new “PCR cycler”, a basic and indispensable machine to identify the genetic causes of centronuclear myopathies.
Thank you for taking the time to view our appeal - to learn more about centronuclear and myotubular myopathy and why we are raising money, please visit our website.
About The Information Point for Centronuclear and Myotubular Myopathy
The Information Point was established in 2001 to help those with the rareneuromuscular conditions known as centronuclear and myotubular myopathy (the
centronuclear myopathies) which are inherited muscle disorders from birth.
Manifesting as a defect in the cell structure of voluntary muscles and causing
low muscle tone the conditions affect children and adults. The term myotubular
myopathy is currently used to describe the x linked form of the condition while
centronuclear myopathy is used to refer to the autosomal forms. Collectively,
the three forms are known by the umbrella term of 'the centronuclear
myopathies'.
The characteristic feature of the centronuclear myopathies is the presence of the
nucleus in the centre of the muscle fibre instead of the usual position at the
edge. The centronuclear myopathies are so rare that there are no good estimates
of their incidence, a guess-timate would be somewhere between 1/50,000 and
1/100,000 for each form and perhaps slightly greater when the forms are
combined.
The Information Point aims to bring those with centronuclear and myotubular myopathy together, whatever their age, whatever
form of the condition they have and wherever they may be in the world; and to
create awareness of these rare conditions. The hope, to create a one stop shop
where people can visit to find all the information they will need at their
fingertips in the early days of diagnosis and beyond and also to provide help to
those whose work may bring them into contact with affected individuals.
For further information about centronuclear and myotubular myopathy and to learn
more about our work, please visit our website at http://centronuclear.org.uk.
Contact The Information Point for Centronuclear and Myotubular Myopathy
Contact person:
Toni Abram
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