We are pleased to announce that we have invested approximately £375,000 into two nemaline myopathy research projects. This was largely made possible thanks to the generous support of MAP Nemaline, a Family Fund set up to fund research into this condition.
Nemaline myopathies are a group of conditions that cause muscle weakness from birth. They are very rare, with less than 50 people affected in the UK. Although several genes are associated with nemaline myopathy, most people living with the condition carry a mutation in a gene called nebulin.
Meriel Park (pictured) has nebulin-based nemaline myopathy. Her family set up MAP Nemaline in order to fund research that will help to improve the lives of children like Meriel.
The two new projects are as follows:
- Dr Carina Wallgren-Pettersson – Improving the diagnosis of nebulin-based nemaline myopathy
- Professor Coen Ottenheijm – Putting the brakes on muscle atrophy in nebulin-based nemaline myopathy
The projects came out of an international grant call that was launched following a strategic workshop in September 2015. As part of this workshop, experts from around the world came together to assess the state of nemaline myopathy research and identify areas for investment.
Meriel’s father, Charles Park, said:
We at MAP Nemaline are delighted to help support two research grants at Muscular Dystrophy UK. The workshop in September 2015 concluded that better understanding of the nebulin gene and what causes muscle atrophy are vital to the long-term goal of trying to find a treatment for this condition. We feel the results from these two projects will help bring us closer to this, and may also deliver a wider understanding of what causes muscle weakness.
We were very impressed with Muscular Dystrophy UK’s scientific review process, as well as the level of collaboration between researchers in the field. We look forward to seeing what the funding uncovers.
For more information on nemaline myopathy, read our factsheet
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Help us to change the lives of people living with nemaline myopathy by making an online donation to MAP Nemaline. Thank you for your support.