The closing session: what’s happening in Chromosome 9

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 After three days of deep discussion and debate among researchers clinicians and health and social care professionals, the final talks of the symposium begin. The room fills with over 800 people for the last time.

The closing session begins with ‘late breaking news’. This is an exciting opportunity for very new and exciting results to be explained to all delegates.

Dr Bryan Traynor, who is a genetic researcher based at the National Institute for Health in Maryland, America was first to take to the stage. Last week, Dr Traynor and colleagues released their finding that a new causative gene for MND had been identified. This is the third to be discovered this year alone, which demonstrates the immense speed that MND genetic research is moving.

In the talk, Dr Traynor described his recent findings. The gene is called VCP, which stands for ‘Vallicin-Containing Protein’. It was first discovered by Bryan’s group in a family affected by inherited (familial) MND and was soon verified as a cause of the disease for other people with familial MND.

They speculate that VCP is the cause of MND for 2% of cases of familial MND. For more information on what this finding means to people affected by MND, please read our press release on our website.

Through Bryan’s talk, we also heard that this particular gene is found on chromosome 9. A chromosome is an organisational structure for our genetic code – as humans, we have 23 pairs numbered 1 to 22 with the final pair being the sex chromosomes (XX or XY). The news that VCP is on chromosome 9 is an interesting one given that earlier this year a study, led by Prof Ammar Al-Chalabi – an MND Association funded researcher, at King’s College London found a region of DNA within chromosome 9 that contains three genes that may be associated with the randomly occurring sporadic form of MND; a condition called ‘fronto-temporal dementia’ (FTD) that affects behaviour, emotional response and language skills; as well as a rare inherited form of MND called MND-FTD.

However, it is important to note that the genetic regions are not the same, they are just found on the same ‘street’ of the chromosome. An interesting co-incidence none-the-less!

Prof Ammar Al-Chalabi next took to the stage with a talk entitled: What else is hiding in Chromosome 9. In his talk he discussed the reasons why finding the exact underlying genetic cause of MND-FTD in chromosome 9 is so difficult.