Before we head into the poster session, a quick mention about this afternoon's clinical trials session. The session was full and is always one of the most popular sessions as we all pin hopes on new treatments for MND. We’ve jotted down our takeaways in an overview blog below. 

We’re now about to listen to Jonathan Cooper-Knock from the UK talking about new discoveries about individual brain cell types using advanced single-cell testing of MND and healthy tissue. 

Dr Cooper-Knock was recently appointed to the first Rob Burrow Professorship in Translational Neurobiology, funded by the MND Association. The role will advance his research into the genetic causes of MND and support the development of new treatments. The Professorship honours the legacy of Rob Burrow, whose support, awareness-raising and fundraising has helped progress MND research. The Burrow family and the MND Association hope this work will accelerate progress toward effective therapies for the disease. 

We’ve just heard Professor Toru Yamashita from Japan discussing his study of a family in which three siblings developed MND. They discovered all three had two faulty copies of a gene called DNAJC7.

This gene normally helps keep certain proteins, especially one called TDP-43, from clumping together inside nerve cells. When DNAJC7 doesn’t work, TDP-43 builds up and damages motor neurones.

Lab tests in zebrafish confirmed that losing DNAJC7 function causes TDP-43 build up and nerve cell death.

This shows having two copies of the faulty version of the DNAJC7 gene can cause inherited MND, and that the gene plays a key role in keeping nerve cell proteins healthy — which might open new paths for treatments.

Following that, Dr Kevin Kenna from the Netherlands described his team’s study into the DNA of thousands of people with and without MND to find genes that increase the risk of the disease. The team identified some novel genes which may be linked to the risk of developing MND. This could give researchers new clues about how the disease starts.  

Meanwhile, colleagues are in the clinical trials session which runs simultaneously – more from them on that soon! 

The clinical trials session is just getting underway now. Did you know clinical trials go through three or four phases before they can be considered for approval? 

The push to find new and effective treatments for MND is worldwide so this opportunity to share ideas, results and learning is crucial.  

As we head into lunch, a quick skim around the halls suggests a definite air of excitement and focus. 

This afternoon we’ll see sessions around genetics and how trial design impacts our search for treatments, with speakers from Japan, South Korea and Australia.  

Just now, we heard from Dr Andrew Douglas from the UK, whose work focuses on how often carriers of the C9orf72 repeat expansion* develop neurodegenerative disease and how this risk varies between families.  

His study of 52 UK families found that 64% of people with the C9orf72 mutation develop a neurodegenerative disease by the age of 80, with large differences between families and most cases being MND, suggesting there are other factors that affect who becomes ill. 

*The C9orf72 repeat expansion is a genetic glitch where a small piece of DNA is copied too many times, which can harm nerve cells and lead to conditions like MND