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Exploiting genetics to understand environmental risks for autism

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On March 13th, Dr. Mark Zylka from UNC gave a 60 minute overview of how researchers are using autism-relevant genetic mutations in cells to start to understand the interactions between genetics and thousands of environmental factors on gene expression.  He pointed out the convergence of pathways in how genes and these environmental factors worked in the brain, and they included:  neuroinflammation, early brain development, turning neurons on and off, and cell signaling.  Dr. Valerie Hu from George Washington University commented on the important impact of these results and perspective from her lab studying epigenetically modified genes, like RORA, which also may be sensitive to common chemicals found in our environment.  The entire webinar, including the questions that they were able to answer from participants, is found here.

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Who could have thought the genetics of autism was so complicated?

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On Monday, the much anticipated MSSNG study which analyzed the entire DNA sequence of over 5000 people with autism was published.  The press release can be found here.  In it, the researchers found even more genes of interest to autism.  Also, those with more of a specific type of mutation, copy number variations, had worse autism symptoms.  But of course, the story gets more complicated than just more mutations – worse behavior.  An analysis from a different group of individuals reinforced the role of copy number variations in symptoms, but when they matched the groups according to IQ, the autism symptom profiles were different.  This shows that adaptive behavior  and IQ are important to consider when considering how genetics influence autism symptoms.  Finally, another study shows how important measuring genetics is to understanding environmental factors associated with autism.  Michela Traglia reports that increases in PBDEs in moms of kids affected with autism can be explained by mutations in the gene that breaks down these chemicals.  It’s important to study genetics of autism, but also crucial to know the genetics of the entire family as well.

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Narrowing down gene and environment interactions in autism

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With hundreds of genes, thousands of environmental factors, and now sex being variables in determining risk for autism, where should science start?  Over the decades researchers have been able to start narrowing down the combinations based on specific behaviors of interest, genes, and mechanisms which may narrow down which gene, which environmental factor and which sex.  Dr. Sara Schaafsma and Dr. Donald Pfaff from Rockefeller University combined the three, and found that epigenetic changes in an autism risk gene called contact in associated protein like 2 contributed to elevation of risk for autism behaviors following maternal infection.  In other words, being male and having the mutation produced small changes, increased by the environmental factor.  In another separate study, Dr. Keith Dunaway and Dr. Janine LaSalle at UC Davis used brain tissue to look at a rare variant for autism on chromosome 15.  Typically, mutations of this area of the genome are thought to cause autism.  However, the effects of these mutations are also increased when environmental factors are present, leading to more de novo mutations.  These are all examples of scientific breakthroughs that are helping better understand what causes autism.  Even when it looks like one thing, it’s multiple things.

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And now….the 2016 year end summary of autism science

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The year 2016 was eventful for many reasons.  In this 20 minute podcast, we review some of the scientific discoveries that highlighted findings in causes, understanding, and treating ASD.  Featured more this year is studies on the sibling of individuals with ASD, so we are calling 2016 “The Year of the Sibling”  This review includes genetics, gene x environment interactions, diagnosis, the broader autism phenotype, and early interventions and the role of parent-delivered interventions in long term outcome.  It also highlights the important role of studying brain tissue from individuals with autism to better understand people with autism across the lifespan, including those with known causes and unknown causes of ASD.  We hope you find it informative – please send comments to ahalladay@autismsciencefoundation.org

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The potential role of epigenetics in the sex differences in autism

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On Tuesday November 15th, Tracy Bale from University of Pennsylvania provided an insightful analysis of sex differences in behavioral, physiological and molecular outcomes following prenatal stress.  She outlined the potential epigenetic markers that may lead to resilience in female offspring which has direct implications for autism.  However, prior to Dr. Bale’s presentation, Donna Werling from UCSF briefly outlined the genetic and behavioral data so far about females with autism and why there is a 4:1 ratio in males to females getting a diagnosis.  This webinar is part of the Environmental Epigenetics of Autism Webinar Series co-organized by Autism Science Foundation, Autism Speaks and the Escher Family Fund for Autism.

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Where are all the girls with autism? Live from the Seaver Center Conference

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Hear what you missed if you were unable to attend the Seaver Autism Conference on September 25th!  Dr. David Skuse discusses “where are all the girls with autism”, summarizing evidence that some girls with high verbal IQ and autism might be missed, suggesting genes associated with high IQ may be protective against a diagnosis until adolescence.  Also, ASF grantee Dr. Jennifer Foss-Feig describes how biomarkers can be used to improve personalized medicine.  Finally, a summary and review of the new air pollution systematic review and meta analysis.  Limited evidence does not equal none, and air pollution is a real problem.  Here is a link to the paper:  http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161851.  All in 12 minutes.

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Environment or genetics in autism symptomatology? How about both?

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This week I am in Minneapolis at an incredibly important meeting of Medical Examiners to pitch them the importance of collecting brain tissue for Autism BrainNet.  While I was here I noticed a new study on the blogs that is important for families to hear about.  It focused on a known environmental exposure in established genetic groups.  The authors of the study, led by Dr. Sara Webb at University of Washington, showed that an environmental exposure can modify symptoms in genetically susceptible narrow subgroups.  This is the sort of research that will better describe how environmental exposures are affecting autism risk.   Thank you to Dr. Sara Webb for your perspectives and interpretation of the data!