“This work is the culmination of many years work by doctors and scientists studying this condition and it is due in large part to the courage and tenacity of many patients facing MND, particularly the Welsh family and the Finnish cohort.
"Although this work is the end of our long hunt for this gene, it is the beginning of our search for therapies based on this discovery that can stop this brutal disease in its tracks.”
Dr Hew Morris, MND Association funded researcher at Cardiff University.
Cutting edge stem cell project yields results
An MND Association funded research programme has produced a key development that could have a powerful impact on the search for treatments for MND. For the first time stem cells derived from adult skin were used to generate living human motor neurones that display key characteristics of MND.
This work was conducted by an international research team, led by world-class scientists from the University of Edinburgh, King’s College London and Columbia University (New York).
Dr Brian Dickie, Director of Research Development at the MND Association, said: “This advance is a significant milestone on the road to developing a laboratory model of MND that faithfully reflects the cellular events happening in the patient."
"It is also a testament to the importance of international collaboration, with eminent scientists from leading institutions around the world focused on the common goal of understanding and, ultimately, defeating this devastating disease”.
In January 2013, Dr Martin Turner reported that a pattern of degeneration had been identified in the brains of people with MND that is linked to the level of disability.
Using an advanced brain scanning technique called ‘whole-brain magnetic resonance spectroscopic imaging’, Dr Turner and colleagues found that the levels of a chemical found in the brain called N-acetylaspartate (NAA) decrease when the functional capabilities of people with MND decrease.
This is the third discovery from Dr Turner’s BioMox project funded through his MND Association / MRC Lady Edith Wolfson Clinical Fellowship.
Dr Turner said: “This type of MRI scan can be thought of as producing a ‘chemical’ picture of nerve damage. We knew that NAA was quite a sensitive marker in MND, but until now we were not able to study the whole brain at once in a standardised way.
"It’s also another example of the enormous value of research that involves the actual patient living with MND, and healthy volunteers. This type of research is fundamental to translating the really exciting findings emerging from the laboratory test tube.”
"Many people affected by the disease develop problems breathing as their breathing muscles weaken. Research has proved non invasive ventilation (NIV) can improve the quality of life and the length of survival for many people with MND.
"However we believe that many who would benefit from NIV are not being offered it. We hope that the new clinical guideline will mean more people have access to this intervention if they so choose, and if it is right treatment for them."
Karen Pearce, Director of Care (South), MND Association.
Chair of Motor Neuron Biology established
The Chair of Motor Neuron Biology at the University of Oxford will be held by Prof Kevin Talbot. He gave his inaugural lecture to HRH The Princess Royal and guests on 1 November 2011 to mark his appointment to this prestigious role.
The establishment of the Chair, the first in the UK, is supported by the MND Association and the Spinal Muscular Atrophy Trust and will help to play a vital role in the development of our understanding of complex diseases like MND.
Read Oxford University's press release.