The 24th International symposium on ALS/MND took place in Milan at the AtaHotel Quark between the 5th and 8th of December of 2013. As a medical student hoping to pursue a career in Neurology/Neurosurgery it was a great opportunity and a great honour to be able to attend this symposium and hear about the latest research on ALS/MND from the people who are the front-runners in the field. Recently, I was involved in a project looking at the Quality of Life in ALS/MND patients and as a topic of personal interest I am hoping to report on Session 2B titled Autonomy and Quality of Life which took place on Friday the 6th December. This session consisted on 5 presentations and I will give a brief summary of each presentation in this blog. Continue reading
While our understanding of ALS and its genetic background has been growing rapidly in recent years, we are still far away from understanding the selective neuronal death in ALS. The presentations in the first basic science session of this year’s symposium on ALS/MND provided new ideas on this fascinating subject.
Ah, Milano. Home of Armarni, The Last Supper and Panettone…in no particular order of importance, of course! This year Milan was also home to the annual International Symposium on ALS/MND. There was a plethora of high quality research on show this year, particularly at the clinical session on cognitive and psychological change in ALS. A dominant theme of these talks was the issue of effective screening for cognitive-behavioural change in ALS patients. There is increasing recognition of cognitive-behavioural symptoms in ALS, but identifying patients who show such symptoms is troublesome. Clinical settings are limited in time or staff resources. Furthermore, the pervasive use of standardised measures which are not designed with ALS patients’ physical symptoms in mind risks overestimating impairment. Standardised screens might also not be sensitive enough to detect the types of cognitive changes that commonly occur in ALS patients.
The first talk in the GENETICS session was given by Roger Sher and demonstrated how the different genetic mouse backgrounds affect the survival of the human G93A SOD1 transgenic mice. In inbred lines, the B6 background extended life by 32 days whereas NOD, ALR and SJL backgrounds decreased the lifespan of the G93A SOD1 transgenic mice, but up to 52 days. This was not due to alterations in the expression of the transgene at either RNA or protein level. Sher and colleagues hypothesised that there were quantitative trait loci in the mice which conferred this advantage/disadvantage and identified region on chromosome 17, highly associated with this trait. Thirty-three genes have been identified in the region which have SNPs significantly associated either with a reduction in lifespan or onset of disease. Further analysis is ongoing. (The initial paper describing the effect of mouse background is available in Amyotroph Lateral Scler. 2011 12:79-86.)
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It’s just over a week since the 24th International Symposium ended. As a medical student attending my first international research conference, it was inspiring to experience the progressive and collaborative efforts of ALS/MND researchers and health care professionals coming together in Milan from all over the world. I decided to report on session 2B – ‘Autonomy and Quality of Life’, which was the first clinical session on the Friday morning after an exciting opening session. Encouraging autonomy is an essential step towards the empowerment of patients suffering with the disease and the importance of quality of life is particularly pertinent in ALS/MND as the disease is currently incurable and treatments are limited.
The 24th International Symposium has just ended and I’m starting to rearrange all my notes to write a report regarding the last scientific session of the meeting (10A) entitled Protein Processing and Degradation.
Like the rest of the meeting, this session was very busy and international, with speakers coming from many parts of the World, such as Europe and USA, Canada and Australia.
But let’s start talking about the main characters of the session: proteins.