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A new type of genetic mutation in ASD

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On today’s ASF podcast, ASF funded researcher Ileena Mitra from the lab of Dr. Melissa Gymrek at UCSD will explain a new type of “de novo” genetic mutation. Those are those spontaneous mutation that happen in kids with ASD but not parents or family members. So where did they come from? Well, this study looks at a mutation that affects tandem repeats, which are those repeating DNA sequences: CGG CGG CGG CGG. A newly built bioinformatics platform showed that these mutations may account for 1.6% of simplex (one person in the family is affected). Likely we are going to hear more about these types of mutations in ASD, so listen to the scientist explain the science herself!

https://www.nature.com/articles/s41586-020-03078-7

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Let’s Get Some Physical Activity

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Everyone needs some physical activity, but people on the spectrum typically get less activity than those not diagnosed with ASD. Why? There are multiple reasons, but as it turns out it can’t all be blamed on the obvious culprit of increased screen time or video game use. Those can be reasons why teenagers get less activity, but not specifically those with ASD. Does physical activity help with ASD symptoms and features? Maybe a little. Different types of physical activity are discussed on this week’s ASF podcast.

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Happy New Year – reasons to be excited for 2021

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Welcome to 2021! Over the holiday break, autism researchers were busy coming up with answers to important questions: 1) how does an environmental exposure relevant to ASD change gene expression and 2) does Telehealth work and for whom? The first question was addressed by an ASF undergraduate who published in Nature. He is going to go on to do great things.