Queen’s Square in London, a green and calm space tucked behind the busy Russell Square, is known for the famous National Hospital for Neurology and Neurosurgery. One of the MND Association’s Care Centres is based at the National – providing important multidisciplinary team care for people with MND. However, in a concrete tower block, tucked in the corner of the Square is the Institute of Neurology, University College London (UCL). It’s a real gem of MND research activity, or in recent times you might say a beautiful crystal of ice!
The Association funds over £2 million on MND research projects every year. When we commit funding it is typically for a three year period – so in a way we are agreeing to spend money we haven’t yet raised. To help us raise that money its important my fundraising colleagues understand as much as possible about MND research. This week, to help them do that we met with MND clinicians and researchers working at the Institute of Neurology. (More information on research we fund is available on our website).
“Ultimately we want to develop something patient friendly we can use in the hospitals” explained Dr Andrea Malaspina, MND Association grantee. One of the things that is unique about Dr Malaspina’s project is that he’s collecting samples from people with MND over time. He has over 15,000 samples from people with MND and those unaffected by MND (to act as ‘controls’), ranging from urine to CSF. Working with colleagues at UCL, Dr Malaspina is based at Barts and is developing contacts in other areas of London, in South West England and Oxford in his search for a biomarker for MND.
While I was pondering the networks that Dr Malaspina was developing, Dr Adrian Isaacs showed us a network of a different kind – a beautiful image of a motor neurone taken down a microscope. Tagged with a green fluorescent protein, it looked like a neon octopus! His research is concentrating on an MND-causing gene called C9orf72. He showed us images of motor neurones known to be affected by C9orf72 MND – where clumps of ‘RNA’ AND clumps of proteins could be seen (clumps aren’t a good sign.. ). It sounded like a crime drama – two suspects on the scene but whodunnit – which of these two clumps was responsible for the death of the motor neurone?
Proteins are the workhorses of the cell – they do everything from keeping its shape to ensuring the jobs get done – in the case of a motor neurone, that’s carrying messages to the muscle. Proteins are made from DNA and in intermediary in this process is RNA. (More information on this is given in our ‘Baking with proteins, RNA and DNA’ blog post). The natural flow from DNA to RNA to protein made it really difficult to work out if it was the C9orf72 RNA or the C9orf72 protein that was killing the motor neurone. “It took us a couple of years to work out how to look at either just the RNA or just the proteins” commented Dr Isaacs. The solution was to study C9orf72 in a fruitfly model of MND. The nerves that supply the eyes of the fly gives a very visual (excuse the pun!) sign of nerve damage. Using this model he was able to look at the RNA separately to the protein – and found that the protein was very clearly toxic. One next step could be to look at the levels of C9orf72 protein in the samples Dr Malaspina has collected from people with MND.
You can read more about this ground breaking research that was published in the prestigious journal ‘Science’ at the beginning of last month in another article on our blog. Dr Isaacs commented during our visit that the Science paper has already been viewed over 11,000 times!
It was the first time that I had met Dr Isaacs, whose research we are now funding. His enthusiasm and that of his colleagues at the Institute of Neurology for their science was something that really came shining through the whole afternoon. Allowing the young and newly established researchers to develop their careers in MND research was something that Professor Linda Greensmith mentioned in her presentation.
“When I joined the Institute of Neurology in 1999 as a Graham Watts Senior Fellow, I was the only one working on MND here at the time. As well as conducting research, developing the next generation of MND researchers was part of my remit” she explained. In the intervening 15 year period, Professor Greensmith has supervised 26 PhD studentships working in her MND research labs. This included 6 clinical fellows, similar to the MND Association’s partnership with the Medical Research Council (MRC) (through which Institute of Neurology-based neurologist Dr Pietro Fratta got his PhD). “Its great to have medically trained students in the lab” Prof Greensmith commented, “they bring a different, patient-led perspective on our work”.
I really enjoyed my afternoon hearing the above and many other excellent researchers explaining their working to us. A big thank you to them for their time. I came away from the Institute of Neurology knowing that it is buzzing with people working incredibly hard to understand the cause of MND, working on developing effective treatments – and doing a few Ice Bucket Challenges along the way..