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.
On May 4th, Dr. Janine LaSalle from UC Davis and (the soon to be Dr.) Keith Dunaway presented on recent research investigating the role of environmental factors in individuals with Dup15 Syndrome. Individuals with a mutation on chromosome 15 are often diagnosed with autism and previously it had been assumed that these individuals were destined to have a diagnosis due to their genetics. Dr. LaSalle shows that many of the genes in a critical region of chromosome 15 are tied to turning genes on and off via a process called methylation. Environmental chemicals or other exposures may also work on these genes to turn on or off gene expression epigenetically. The first half of the webinar reviews crucial ideas in gene x environment interactions and epigenetics, the second half describes experiments using brain tissue of those with Dup15 Syndrome and autism, as well as cell lines, to understand the role of PCBs in gene expression.
Last month, UC Davis researcher Cyndi Schumann used resources for the Autism BrainNet to look at what causes differences in the rates of diagnosis between males and females. Consistent with other studies on this topic, males and females don’t show differences in the rates of autism genes, but rather in the way that the brain controls other genes that code for things like neuroinflammation and development. Clearly more studies are necessary but it is consistent with the Female Protective Effect in autism. The full text can be found here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294827/
And also, there was a study on genital herpes and autism that CNN got totally wrong.
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.