Archival Autism
This week on On Your Mind:
It’s an OYM blast from the past with this week’s special-release, archived episode!
This episode starts out with a well-deserved congratulation to our very own Liam, for acing his PhD candidacy exam. Now he’s formally allowed to do more work for no change in pay! We also talk about how frustrating it can be when your experiments don’t work and how nerve wracking it is waiting for a funding decision. This is the first (and hopefully last) episode where the “Kath-eter of science” makes an appearance and then it’s onto this week’s paper.
It’s called “Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing” by Jiang et al. doi:10.1016/j.ajhg.2013.06.012 This paper brings up some nostalgic flash-backs from Kat, who used to work in ASD research before taking the leap into grad school. Autism spectrum disorders affect 1 in 88 children and are defined by deficits in social skills, communication and repetitive and restrictive interests. Genome-wide association studies (GWAS) have identified genetic polymorphisms that contribute to the risk of ASD but these are common mutations that can’t explain the whole genetic landscape of the disease. This week’s paper uses whole genome sequencing (for a video tutorial: http://www.youtube.com/watch?v=Rzmm57udYdk ) to identify new, rare mutations that are found in 32 children with ASD. These include single nucleotide changes (SNP or SNV), and larger alterations to the genetic sequence (indels and CNVs). The authors attempt to prioritize future medical interventions and follow up for children based on their genetic findings. Of course, this leads us to a rather epistemological discussion on personalized genomics and the pros and cons of putting disorders on a spectrum in the first place.
Finally, this week wraps up with a debate about predicting the impact of your research inspired by this article in Science. (http://www.sciencemag.org/content/340/6138/1265.full.pdf)