Meeting September 13, 2017

Genes and Society in the News:

Article for Discussion:

Discussion Points:

  • We focused on the original Nature Neuroscience article.  It reports that 7.5% of de novo, or non-inherited, mutations in people with autism spectrum disorder (ASD) appear in only some of the body’s cells, based on analysis of sequences from nearly 20,000 people.
  • Many of these affect the amygdala, which is involved in formation and storage of memories associated with emotional events, thus plausibly with ASD. Previous studies missed most of these mosaic mutations. Conclusion that PZMs constitute a significant proportion of de novo mutations and contribute importantly to ASD risk.
  • General agreement that the article not clearly written, especially with its free use of technical terms not necessarily defined clearly or widely understood––trio, ASD proband, etc.
  • Some questions about the diagnosis of ASD and even its definition, e.g., one or many disorders? social shaping, especially in schools? differential diagnosis by class and ethnicity? 

     

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