Standing room only at the opening session of the symposium

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Standing room only at the symposium

The International Symposium on ALS/MND has now begun! As researchers, clinicians and health and social care professionals from around the world came together in the opening session, the room began to buzz with excitement and anticipation for this year’s three day conference to begin. Most were lucky enough to grab a seat, but as all delegates filtered in, it was standing room only!

Our appetites for learning more about recent advances in clinical and scientific fields of MND research was soon whetted by the first two speakers of the symposium who were given the honor of addressing all 820 delegates.

The importance of understanding TDP-43

The first talk was about TDP-43. TDP-43 is one of the biggest breakthroughs in MND, not only because faults in this gene were identified as a cause of inherited MND, but also the TDP-43 protein (coded for by the gene), was found to clump together in the majority of cases of the disease. This means that TDP-43 may play an important role in all forms of MND and so, learning more about it may unravel some of the mysteries of ‘what causes MND’ .

Normally, TDP-43 is found in a cell’s control centre (nucleus) where it helps to ‘edit’ complex genetic instructions, making them more readable for the cell’s protein-building machinery. Virginia M-Y Lee from the University of Pennsylvania who gave the talk described some of the knock-on effects that occur in motor neurones when TDP-43 goes wrong.

In MND, TDP-43 appears to be lost from the nucleus and accumulates in characteristic clumps in the main body of the cell. By studying a special mouse model, Prof Lee’s team was able to investigate the consequences of TDP-43 not being in the nucleus to perform its usual job, including changes to the way that parts of the genetic code were read.

As a number of neurodegenerative diseases are generally characterized by clumps of different proteins – ie MND is TDP-43, Alzheimer’s is Tau etc, then learning about how TDP-43 can cause MND may shed some light on other diseases too.

Gathering evidence to improve care

To complement all this intricate science, Prof Bob Miller whetted the appetite of the healthcare professionals in the audience by discussing the most recent care practice guidelines for MND issued by the American Academy of Neurology. These guidelines are based on evidence from healthcare research and aim to advise neurologists and other professionals on the most helpful approaches to caring for people with MND.

However, as Prof Miller pointed out, there are plenty of gaps in the evidence and this presentation was something of a call to action, highlighting where work really needs to be done in areas such as when somebody living with MND should start NIV, what the effects of a high fat, high calorie diet is on somebody with a PEG, and whether riluzole has a longer benefit than suggested through original clinical trials.

What struck Jane Connell and Kevin Thomas, two of our regional development care adviser helping me to report from this year’s symposium, about this talk was that from 1980 to the present day, we really have and continue to move forward towards a deeper understanding to fill in the gaps of our knowledge on care issues. There are a lot of challenges yet to be faced but we are at least moving in the right direction.