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Autism genes that are seen in everyone

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This was a very genetics-centric week because of two exciting new publications that focused on genetic risk factors.  In the first, Dr. William Brandler at UCSD demonstrates that mutations in autism risk genes come in all sorts of different forms, but they must be in the right genes to lead to a diagnosis.  Just having different mutations is not enough. Also,  in an intriguing analysis led by Dr. Elise Robinson at the Broad Institute (and also summarized on SpectrumNews), she looked at these autism risk genes in people without autism and found that we all have them.  Reiterating what Dr. Brandler found, she showed that the spectrum of autism genetics may be broader than the spectrum of an autism diagnosis.  It may explain symptoms of autism without a diagnosis in family members as well.

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Regression in autism, down to the neuron

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On Friday, February 19, the NIH organized a workshop on regression in autism.  It included autism researchers as well as neurobiologists studying regression in other disorders, specifically Rett Syndrome.  Rett Syndrome is characterized by a regression in symptoms around 18-30 months of age but is the result of a known genetic mutation.  Because the genetic mutation is know, researchers have been able to make huge advancements in the study of the cellular causes of regression.  Do they apply to autism?  The theory of overturning is presented and discussed in the workshop and on the podcast.  You can see the full agenda at:  https://iacc.hhs.gov/non-iacc-events/2016/loss-of-skill-agenda-february19.shtml

Here are some screen shots of the workshop:

 

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