This week I attended the 6th annual UCL Neuroscience Symposium. In true Weekademia fashion, here are my highlights told through some cracking quotes…
“Although you are a Nazi and a fascist, I would appreciate any advice on ways to reduce risks in my family.”
Dr Elvira Bramon gave an insightful talk on the genetics and biological markers for psychosis. Her work has put to bed jokes that psychiatrists can’t find genes, publishing in nature a genome-wide association study identifying no less than 108 genetic regions associated with schizophrenia. This study confirmed once and for all that genetics is indeed a major cause of the illness; she explained the two most significant locus’s included genes involved in acquired immunity and the dopamine receptor 2 gene (DRD2). For me though, the most poignant aspect of this presentation relates to heritability – your risk increases the stronger your relatedness to an affected individual. Bramon is working towards identifying premorbid risk indicators. The ‘you are a Nazi’ quote is taken from a letter from a paranoid schizophrenic and although the risk is high for their family (the individual was marrying someone with bipolar disorder), it highlights the importance for families to know and understand their risks as, positively, there are ways to reduce risk and manage symptoms.
“An excellent example of translational neuroscience research; from concept to clinic in seven years.”
Professor Linda Greensmith presented her work on inclusion body myositis (IBM) as a shining example of translational neuroscience research. This is something much closer to my field, and also to my heart since a family member of mine suffers from sporadic IBM – the most common acquired muscle disease in the over 50s. Patients undergo a slow but progressive weakness and wasting of both distal and proximal muscles which are characterised pathologically by the presence of inflammation around muscle fibres and the presence of ‘inclusion bodies’ within the fibres themselves. Similarly to neurodegenerative disorders such as Alzheimer’s and motor neurone disease, these inclusion bodies contain protein aggregates. Clinical trials targeting inflammation in IBM patients have been disappointingly ineffective and there remains no specific treatment. Greensmith, attuned to the similarities with motor neurone disease, developed a cellular IBM model and tested a drug called Arimoclomol, which is under investigation as a treatment for motor neurone disease. Arimoclomol is a co-inducer of the heat shock response that protects cells from toxicity associated with defective protein folding. Her lab have demonstrated improved pathology following treatment both in vitro and in vivo and, after a successful safety and tolerabiliry trial, the IBM community anxiousley awaits results of a phase II efficacy study.
“We are learning about laughter throughout our entire adult life.”
Professor Sophie Scott gave an appropriatly hilarious talk on the science behind laughter. She used a clasic cricket commentary clip to demonstrate how laughter will always overrule breathing and talking during bursts of ‘real’ involuntary laughter. You can see the changes in pitch and associated muscle spasms on the chart below. She explained these bizarre noises are involuntary, primitive and animal-like and that laughter is shared across cultures and among mammals, including rats who are apparently rather ticklish!
Scott’s presentation was highly entertaining and I recomend you watch her TED talk on laughter here. Interestingly she has demonstrated that our ability to distinguish posed from real involuntary laughter doesn’t peak until our late thirties and that the older you get the less contaigous laughter becomes – presumably because we have gotten better at understanding laughter rather than just being really grumpy!
“We have essentially put dementia in a dish.”
My final quote takes me back to familiar territory. My friend and old colleague Dr Selina Wray presented her work on generating induced pluripotent stem (iPS) cells from skin cells (fibroblasts) collected from patients with various forms of familial dementia. These stem cells can be converted into neurones and used for disease modelling and drug development. In an honest account of her progress Wray explained that whilst reductionist the approach has successfully recapitulated some of the molecular features of frontotemporal dementia caused by mutations in the microtubule-associated protein, tau. Importantly for the fight against dementia, Wray’s lab is making available their patient cell lines in an open access repository.
I hope that this post has given you a good taste for neuroscience research and its impact. I always enjoy these symposiums as there is such a great mix of content to let you step away from your comfort zone and learn something new.