The Seventh Women in Science Switzerland Luncheon

Post date: Nov 08, 2018 6:34:37 PM

What a nice afternoon in Montreux with the attendees of the 7th annual Women in Science Switzerland Luncheon, hosted by Lola Grace and highlighted by the talk of Claudia Bagna on 'Intellectual and Social Disabilities: from Molecules to Behavior.' Her talk centered on Fragile X syndrome and autism, with some interesting points also about Alzheimer's disease, brain development and enriched environments. I always thought of Fragile X syndrome as being less central to autism, but it turns out to be involved in about 60% of cases and the other 30% are due to an interacting protein, together regulating gene expression at synapses. Again, from a certain perspective, one could say it is all about dynamics of genomic integrity! The main Fragile X protein (FMR1) leads to disease when it is not expressed (as for the BRCA genes, which in contrast are important for correct DNA repair), and the molecular mechanisms for the gene being 'turned off' (trinucleotide repeats) are well known in other diseases also (but not always affecting whether a gene is expressed or not). Again this is genomic integrity being affected, in this case at the DNA level.

Most importantly, the neuronal connections between cells (especially dendritic spines at synapses, where localised translation can occur) are disrupted in the absence of FMR1, because the regulation of its target genes is disrupted, leading to incorrect responses to cell activation and faulty synapses. Such 'synaptopathies' can lead to many diseases affecting brain development, cognitive function and neurodegeneration.

The extra points in the talk about patient families and how women in science are being helped by research to help understand interview biases were also very appreciated.

If you were there, and wonder about the AGiR! chocolate in your goodie bag, and, especially, would like to get more, maybe even to give to your friends during the upcoming holiday season, please write before 30 November, or phone directly to the master chocolate maker (from Gruyère)! His dark chocolates, we hope, are full of flavanols that may protect genomic integrity. The idea to do a real test of whether eating such chocolate protects genomic integrity isn't new, but maybe the current micronuclei protocols at Hackuarium (even though currently 'without walls') would allow a real test of this sometime soon. I know that is some 'citizen science' that could get a lot of volunteers!

Let me know if you would like to join in... :)