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The molecular signature of the autism brain

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Is there a specific “signature’ that make the autism brain unique? Can there be a common set of findings that certain gene expression goes up and another go down and where? And is it linked to behavior? This week, Dr. Michael Gandal at University of Pennsylvania (formerly UCLA) explains his recent findings that looks at the largest number of brain tissue samples so far from multiple brain regions to show a common up regulation of immune genes in the brain and a common down regulation of genes which control synapse formation and neuronal communication. It is most pronounced in areas involved in sensory processing of the brain. You can listen to the podcast today and read the whole paper here:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668748/pdf/41586_2022_Article_5377.pdf

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Psychedelics and Symptoms

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More and more, psychiatrists are looking to psychedelic medication to help individuals who are resistant to other types of therapies. These include seizures, PTSD and depression. But can they help individuals with autism or ease autism-related problems or improve cognition? Two new studies on cannabis and one on ketamine are summarized in this week’s ASFpodcast. Promising, interesting, but not definitive. It’s a short podcast this week.

https://pubmed.ncbi.nlm.nih.gov/36085294/

https://pubmed.ncbi.nlm.nih.gov/35617670/

https://www.sciencedirect.com/science/article/pii/S2666247722000549?via%3Dihub

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Genetics does not equal eugenics

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Sometimes when the autism community hears the words “genetics research”, it conjures up images of using genetics to eliminate people with autism. In fact, that’s not the goal of genetics research, nor is it even possible. Recently, several new studies were publish which illustrate how genetics can be used to help people understand their diagnosis, and receive more targeted supports. Special guest Jonathan Sebat from UCSD provides perspective on these findings and why genetics research is misunderstood.

https://pubmed.ncbi.nlm.nih.gov/35654973/

https://pubmed.ncbi.nlm.nih.gov/35654974/

https://www.genome.gov/event-calendar/irreducible-subjects-disability-and-genomics-in-the-past-present-and-future

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What is the problem getting to the bottom of biomarkers and gene x environment interactions

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Outcome measures for clinical trials and understanding and determining gene x environment interactions have been two (of many) challenging questions for scientists. In the first study, we explain a new study that looks at the feasibility of three potential biomarkers that have the potential to look at presence of a diagnosis as well as effectiveness of an intervention. In the second half, we describe some new research that shows novel approaches to better understand the presence of an environmental factor with genetic influences, or a new method to describe them in different communities. You can read the studies by clicking below:

https://pubmed.ncbi.nlm.nih.gov/36000217/

https://pubmed.ncbi.nlm.nih.gov/35974006/

https://pubmed.ncbi.nlm.nih.gov/35992618/

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Autism means different things to different people

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At this year’s International Society of Autism Research meeting in Austin, TX, there was a variety of themes explored. From early development and milestones, to intervention and supports, to different features like sensory issues, treatment, and how to solve the problem of heterogeneity. It comes down to this: Autism means different things to different people. This is just a small subset of everything that was presented at #INSAR2022 and I hope that if you want to see more, you advocate to have the presentations posted online or even have the program book made available publicly. In the meantime, enjoy the 30 minute summary.

www.autism-insar.org

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Can animals be autistic?

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The answer is obviously “no”, however, animal models are necessary to help understand brain circuitry and improve interventions and supports for not just core symptoms but associated issues like anxiety, OCD, seizures and GI issues. Scientists view behaviors consistent with an ASD diagnosis differently, and this has created some problems in interpretation of animal model data. This week’s #ASFpodcast will break down a recent paper in Genes, Brain and Behavior which addresses inconsistencies in the literature and makes recommendations on how researchers should shift how they think about how they can replicate features of ASD in a model system.

https://pubmed.ncbi.nlm.nih.gov/35285132/

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What I like about you.

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This week is a “brick-a-brack”: of topics. They include: 1. how COVID-19 is especially dangerous for people with neurodevelopmental disorders; 2. how certain genes associated with neurodevelopmental disorders can affect other body functions other than the brain (like the digestive system and kidney function and metabolism); and finally, 3. why parents think their autistic children are so great. No overall theme, just information we hope you can use.

https://www.ijidonline.com/action/showPdf?pii=S1201-9712%2822%2900048-0

https://link.springer.com/content/pdf/10.1007/s10803-021-05405-x.pdf

https://jamanetwork.com/journals/jamapsychiatry/article-abstract/2788262

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Rare and common genetic variation in autism

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Two weeks ago the topic was gene x environment interactions. But some genetic variants, including rare genetic variants, can exert huge influence on a diagnosis by themselves. New data from genetic samples that have been sequenced are showing an increase in the number of these genes and the role of these genes, and how they work with common variants. What are rare and common variants? How do they influence a genetic diagnosis? And what does this mean for the future of genetics in ASD? Listen to Dr. Behrang Mahjani at Mt. Sinai School of Medicine who authored two recent publications on the topic.

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What causes autism? Genetics or the Environment? Or maybe both?

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Is it genes or is it the environment? or is it a combination? This question has plagued researchers and scientists and caused a lot of confusion in families about what caused their own or their child’s ASD. This week we review the mechanisms by which de-novo mutations could be the work of gene x environment interactions, and share new evidence of how SSRI’s do or don’t contribute to ASD through gene x environment interactions. We also want to recognize the valuable work of scientist Li-Ching Lee to these efforts. Dr. Lee recently passed away but will be sorely missed.

https://pubmed.ncbi.nlm.nih.gov/34002022/

https://pubmed.ncbi.nlm.nih.gov/34116791/

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A genetic first approach to subtypes?

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What causes some of the differences across people with autism? Can you predict who will have what features of autism by looking first at genetics? This week’s ASFpodcast is the first 20 minutes of a webinar with Samuel Chawner from Cardiff University that explains his findings about behavioral features across people with autism with difference in genetic makeup. The full webinar with video can be found here but you can listen to the presentation this week. There will also be more research on this topic.