De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single-nucleotide variants (SNVs) to autism spectrum disorder (ASD). However, challenges in the reliable detection of de novo insertions and deletions (indels) have limited inclusion of these variants in prior analyses. By applying a robust indel detection method to WES data from 787 ASD families (2,963 individuals), we demonstrate that de novo frameshift indels contribute to ASD risk (OR= 1.6; 95% CI= 1.0-2.7; p= 0.03), are more common in female probands (p= 0.02), are enriched among genes encoding FMRP targets (p= 6× 10-9), and arise predominantly on the paternal chromosome (p< 0.001). On the basis of mutation rates in probands versus unaffected siblings, we conclude that de novo frameshift indels contribute to risk in approximately 3% of individuals with ASD. Finally, by observing clustering of mutations in unrelated probands, we uncover two ASD-associated genes: KMT2E (MLL5), a chromatin regulator, and RIMS1, a regulator of synaptic vesicle release

Digital and social media in anatomy education

The use of images in various forms (drawing, photography, digital applications) has always been intrinsically associated with anatomy, however the way in which anatomy educators and students create, access, view and interact with images has changed dramatically over the last twenty years. The method that anatomy educators use to engage with students and the wider public and how students engage with each other and faculty has also changed since the turn of the century, largely due to the emergence of social media. These two facets; the move towards digital images and the use of social media are now intricately interlinked because social media enables anatomy educators to share digital learning resources easily and instantly to a global audience. This new trend of using social media to share digital images has created some ethical dilemmas that anatomy educators are researching and seeking guidance on to ensure that they are representing the potential conflicting needs and/or requirements of different stakeholders including; donors, donors families, students, the public, regulators and anatomy educators themselves. Meeting the various needs of stakeholders is complex, however this chapter suggests an ethical approach for how digital images and social media can continue to be part of anatomy education