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The Transcription Factor Song

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Very rarely are scientists able to look at single genes within the brains of people across neuropsychiatric disorders and understand how the genes in each of these cells influence expression of proteins and interactions of different cells with each other. Recently, a collaboration called PsychENCODE released a series of papers that investigated what genes are expressed in what cells in autism in different situations, how cells that communicate interact with more support or glial cells, and what mechanisms are in place to identify ways in which the broad environment (chemicals, contextual factors, illness) may influence gene expression leading to disorders like autism, schizophrenia and bipolar disorder. This podcast summarizes these papers as they are related to autism – ore at least tries to.

https://www.psychencode.org/phase-ii

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Rest in Power Jim Simons

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A legend in the autism community passed away on Friday. Today’s podcast focuses on the many talents of Dr. James (Jim) Simons, one of the founders of the Simons Foundation that has spent more than $500 million on autism research. We explain how he made his fortune, how he spent it, the importance of the Simons Foundation to the autism community, and advice from Dr. Simons about how to experience a life well lived.

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The ASF Year End Review of Science

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Just three days before 2024, ASF provides a summary of the the highlights of scientific discoveries and how they have translated into tools families can use. They include ways to speed up diagnosis and reduce waitlists, study of the brains in females and clinical recommendations for helping autistic females at birth, evidence of better practices around intervention and supports, and a review of the numbers of people who have a diagnosis. It isn’t comprehensive and if something was missed, our apologies, but the summary is 20 minutes.

You can read the text here: https://autismsciencefoundation.org/2023-year-end-review/

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Top reasons to study the autistic brain

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There are dozens of good reasons why scientists need to study the brains of people with autism. One is to understand what happens in the brain as people with autism get older and see how the brain changes over time. Another is to identify mechanisms of autism to help all neuroscientists figure out how the brain works. A third is improve medicine by determining what helps what people at what age. Scientists @UCDavis, @Penn and @UCLA examined the individual brain cells of people with autism to address these three questions, revealing that the autistic brain shows some similarities to brains of people with Alzheimer’s Disease. In addition, inflammation seen in the brain may be caused by too much activity of cells talking to each other. Studying the brains of people with autism is essential to better understanding and is made possible by families who are committed to research. www.autismbrainnet.org.

https://pubmed.ncbi.nlm.nih.gov/36862688/

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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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The Meaning of Microglia

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We normally focus on the function of brain cells that send signals to eachother and communicate across small or long distances, which show differences in ASD. However, we rarely pay attention to the other cells in the brain. One type of cell, called the microglia, has been shown to not only help “pick up the garbage” of the brain, but also shape these connections that occur between brain cells. This week @DavidMenassa1 from @QueensCollegeOx, @UniofOxford, @unisouthampton published a paper in @Dev_Cell that looks at how microglia shape the brain during critical periods of development, and what this means for ASD. We are grateful he shares his expertise (and a beautiful accent) with us this week.

Check out the paper HERE:

https://www.cell.com/developmental-cell/fulltext/S1534-5807(22)00546-9?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS1534580722005469%3Fshowall%3Dtrue 

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What the h**l is an induced pluripotent stem cell?

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The words “induced pluripotent stem cell” refer to a group of cells that are gathered from a person with a disorder, like autism, then changed or “induced” from a skin cell into an embryonic “stem” cell, and can be then made into baby brain cells, or baby heart cells or baby bone cells. This makes them “pluripotent”. This tool has been used in neurodevelopment disorders to help illustrate when the wiring of the brain starts to go off course. Things start to happen very early after conception and one of the only ways to study these things is by using either embryonic cells or these induced embryonic “stem cells”. The latter is more cost effective and more precise. This technology has an incredibly high potential in understanding autism, but it may never be used as a treatment. Nevertheless, knowing how and when brain development deviates is essential for understanding people with ASD.

https://link.springer.com/content/pdf/10.1007%2F978-3-030-45493-7.pdf

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The newest on using genes to predict later diagnosis and those immune blebs in the brain

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Hot off the press:  new data from a collaboration between the BSRC and geneticists in Canada demonstrate the utility of genetics to predict either ASD or atypical development in infant siblings of children already with a diagnosis.  Researchers have been trying to develop more precise biological mechanisms to make predictions in these infants, because they have a 15x greater chance of having a diagnosis, they can’t afford a “wait and see” approach.  Also, while genetics had originally been thought to be irrelevant to some brain pathology in ASD, it’s now been shown possible that it contributes to the immune hyper activation in the brain.  This week, Dr. Matt Anderson from the Autism BrainNet describes “blebs” in the cells of the brain caused by t-lymphocytes.  What causes them?  Genes?  something else?  Thank you to Dr. Anderson for joining in this podcast to explain.

https://www.ncbi.nlm.nih.gov/pubmed/31801954

https://www.ncbi.nlm.nih.gov/pubmed/31591744

 

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Understanding the brains of people with autism with Daniel Geschwind, MD, PhD

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This week’s ASF podcast is a special treat – Dr. Daniel Geschwind from UCLA provides an understanding of the brains of people with autism, focusing on those with a mutation in chromosome 15.  He goes over how they are similar and different (teaser: they are more similar) and answers questions from families about how this research is important for helping improve the lives of people across the spectrum.

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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