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Ribbit…Ribbit… frogs are the new mouse of ASD research

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You’ve heard a lot about CRISPR technology to manipulate gene expression. But what have scientists actually learned? Well, the cells in which DNA is manipulated could come from different animal models, including frogs and mice. These model systems are used to track brain development, sex differences, and the downstream effects of convergence of genetic manipulations of autism relevant genes on brain cells. They can be used, as one study demonstrated, to examine protective or resilience factors in the brain. This week we talk to Helen Willsey, PhD, at UCSF to hear about her research about manipulating genes in frog eggs and what it says about the female protective effect.

https://pubmed.ncbi.nlm.nih.gov/33497602/

https://pubmed.ncbi.nlm.nih.gov/33243861/

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Get some zzzzzz’s

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Sleep is a huge problem in ASD. But is it just “sleep” or can we get more specific? What role do genetics have? And does being autistic make sleep problems worse? Answers come from an unlikely source: mice! Learn more about recent scientific evidence tying sleep problems to ASDs and neurodevelopmental disorders. These include: type of sleep problems autistic people face, why they exist, where they come from, and how mouse models can help solve them.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639428/

https://www.frontiersin.org/articles/10.3389/fpsyt.2020.559694/full

https://pubmed.ncbi.nlm.nih.gov/30737588/

https://molecularautism.biomedcentral.com/articles/10.1186/s13229-021-00426-w

https://pubmed.ncbi.nlm.nih.gov/33549123/

https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62086

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Age of parents and ASD. It’s complicated.

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Questions have loomed around the finding of an increased risk of parents having a child with ASD if they are under 20 or over 35. Of course not every parent who is really young or older will have a child on the spectrum and plenty of those between those ages also have children on the spectrum. Risk factors for ASD are not absolute, they are nuanced and work with other genetic and environmental factors. This week, Kristin Lyall from the AJ Drexel Autism Institute found that those with a strong genetic influence were not as sensitive to factors like parental age. This goes to show, yet again, that it isn’t about ONE risk factor, it’s about dozens working together. And for those 30 year old parents who had a child with autism – see, not every research finding applies to you directly.

https://www.ncbi.nlm.nih.gov/pubmed/32314879

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521130/

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What sperm tells scientists about the origins of ASD

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Does autism begin at a diagnosis, or before a diagnosis?  How early do genetics influence outcome?  This podcast explores a new angle to this question using studies in sperm.  One type of major ASD relevant mutation is de-novo mutations, meaning they are seen in the person with ASD but neither biological parent.  So where do they come from?  They may come from germ cells of the embryo of the parent, which forms the sperm and the egg.  Researchers from UCSD looked at mutations in sperm vs. blood in fathers of those with de-novo mutations and found an enrichment of genetic mutations in sperm.  This means the window of susceptibility can include not just things that happen at conception, but before conception.  Below is a graphic taken from a commentary of this study in Nature by Eric Morrow which may be helpful.

 

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Yeah, another study about autistic poop

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This week’s podcast includes a summary of the new study, this time in an animal model, looking at microbiome transplantation.  Because this was more of an experimental model, the researchers could be more rigorous in their design and look at things like behavior, brain activity, and specific biological pathways.  While a mouse does not have autism, transplantation of the autism microbiome resulted in autistic-like behaviors.   Second, a hopeful message of the value of participating in research on outcomes – those infants that were tracked prospectively showed improved outcomes later on, suggesting that all of the extra attention they get leads to a reduction in symptoms and an improvement in adaptive behavior.  Even if you do not have a family history of autism – participate in research.  It’s good for your child, and it’s good for other people’s children.

 

https://www.cell.com/cell/fulltext/S0092-8674(19)30502-1 

https://www.ncbi.nlm.nih.gov/pubmed/31032937

 

 

 

 

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Genes and Environment, Genes and Environment. Go together like aging and retirement.

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Twins with autism, where either one or both is diagnosed, is crucial to understand the role of genetics and the environment to both autism diagnoses and now, autism traits.  In a study this week, researchers using data from the California Twins Study examined the genetic and environmental influences of brain development in multiple regions and measures.  While estimates of genetic and environmental influences can only be modeled in twins, they can be experimentally tested in animal models.  Researchers at the University of Washington investigate what causes the link between air pollution in humans and autism by studying diesel fuel exhaust in pregnant mice.  Finally, across all of these disparate animal studies – does anything pull them together.  Are these models all one-offs or do they have anything in common?  It turns out disruption in normal brain activity is one thing that they have in common, and something that is at the common core of ASD neurobiology.

 

https://www.ncbi.nlm.nih.gov/pubmed/30659287

https://www.ncbi.nlm.nih.gov/pubmed/30668980

https://www.ncbi.nlm.nih.gov/pubmed/30679017

 

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Super siblings!

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This podcast is dedicated to siblings of people with autism who are typically developing.  They play an important and beneficial role in development of socialization of those with ASD.  But sadly, they also have issues of their own, such as a high rate of issues like anxiety and depression.  Those siblings may be genetic carries of a specific mutation and not have an autism diagnosis, but have increased risk for schizophrenia and cognitive disability.  Finally, just because they are considered “typically developing” doesn’t mean they don’t have challenges with adaptive behavior.  However, they have a very special relationship with their brothers and sisters, and the world needs these strong advocates for the community.

 

https://www.ncbi.nlm.nih.gov/pubmed/30280363

https://www.ncbi.nlm.nih.gov/pubmed/30248583

https://onlinelibrary.wiley.com/doi/full/10.1111/jcpp.12985

Click to access s41436-018-0266-3.pdf

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Why the Environmental Protection Agency is important for autism

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The Environmental Protection Agency has a big job to do – keep our air and water clean.  They do so, in part, with air monitors placed across the United States which allow researchers to keep tabs on what is going on in our air.  This week, a study from Dr. Amy Kalkbrenner at UWM and colleagues replicated that certain types of air pollution increased risk of autism, as well as increased symptoms of severity of autism in those with a diagnosis.   These pollutants come from cars, but also coal burning power plants.  This new research calls for more action, not less, by the crucial staff and infrastructure of the EPA and policy to help support them do it.  #standwithEPA

https://ehp.niehs.nih.gov/ehp1867/

 

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Brain tissue: what has it done for autism lately?

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In order to ensure that researchers have enough brain tissue to understand autism spectrum disorders, the education and outreach campaign is being expanded past families to doctors and professionals that have access to tissue.  One of these groups is neuropathologists.  At their annual meeting this past week in Los Angeles, and entire afternoon was spent dedicated to autism and the features of autism in the brain.  A summary of the presentations is included in this podcast. Speakers emphasized that the way the brain works in childhood is not the same way it works in adulthood, and a study out of UCSD showed that the genes that are affected in children with autism are different than those in adults with autism.  The mechanisms of genes controlling the developing brain vs. those which affect ongoing maintenance are different.  This calls to make sure scientists understand all ages of people with autism, because as the brain changes, so do the needs of people with ASD.

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What we know about autism by looking in the brain

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On December 13, 2016, Dr. Matthew Anderson from Beth Isreal Deaconess Medical Center presented a 45 minute webinar on recent findings in autism thanks to studying the brains of people with autism.  It covers genetics, neuropathology and immunology.  It’s a great chance to hear a quick recap of findings from an Autism BrainNet node director.  Please click above to watch the 45 minute presentation and questions from the audience.   Most importantly, anyone can be a part of this important research by registering to learn more about the Autism BrainNet at www.takesbrains.org.