Autism BrainNet Newsletter
Autism BrainNet Webinar Series
We are happy to announce a new webinar series hosted by Autism BrainNet. The goal of this series is to educate the public on the challenges faced by parents with autism and how brain tissue research is addressing them.
January 22, 2018
Mosaic Mutations—Present in Some Brain Cells But Not All Brain Cells—And Their Relevance to Autism
On January 22nd, Christopher Walsh, MD, PhD, Autism BrainNet researcher and Chief of the Division of Genetics at Boston Children’s Hospital, presented data on genetic mutations that occur in the brain, and only in the brain. These mutations, named post-zygotic mutations, are seen only in the brain because they occur after the formation of the zygote, when the embryo starts to form and develop and different types of cells are formed. Dr. Walsh presented data on why these mutations are important for understanding symptoms of autism, and how they contribute to the formation of the autistic brain. Please click here to watch the presentation.
May 4, 2017
Investigating Gene x Environment Interactions in “Single Gene Autisms”
Around 5-10% of autism cases are caused by mutations of highly penetrant genes. It was previously thought that environmental factors did not play a significant role in these “single gene autisms,” but recent research has proven otherwise. On this webinar, Dr. Janine LaSalle and collaborator Keith Dunaway highlight the opportunities in studying gene x environment interactions in cases of “single gene autisms.” Please click here to watch the presentation.
April 28, 2017
Understanding the Genetics and Epigenetics of Autism by Looking at the Brain
On April 28th, Dr. Neelroop Parkishak from the lab of Dr. Daniel Geschwind at UCLA presented a summary of findings which looked at the simultaneous activity of several genes together, rather than separately, to identify common biological mechanisms across the causes of autism. He showed that despite different causes of ASD, brain tissue research reveals that there are common biological mechanisms which may be the target of newer interventions. Please click here to watch the presentation.
December 13, 2016
What We Know about Autism because of Brain Tissue Research
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 here to watch the 45 minute presentation and questions from the audience.
October 14, 2016
Epilepsy and Autism Seen Through the Brain
On October 14th, Autism BrainNet hosted a webinar about research on the cellular changes associated with epilepsy in individuals with autism. Dr. Shefali Jeste of UCLA presented on the clinical features of individuals with a combination of epilepsy and autism, and Dr. David Menassa at Oxford University discussed alterations in glia cells in people with both epilepsy and autism. Glia, once thought to only be the support cells of the nervous system, are now known to work cooperatively with neurons that transmit information in the brain. A recording of the webinar can be viewed here.
What Have Scientists Learned? What Do They Hope to Learn?
What have scientists learned about autism from brain tissue research and what do they hope to learn? Researchers learned that there are important cell differences in the brains of people with autism. For example, researchers have discovered that:
- Children with autism have different underlying brain structures compared with typically developing children, including an overabundance of nerve cells in an area of the brain involved in social and communication skills.
- Genes involved in cell connectivity tend to be expressed at lower levels in autism brains, and genes related to immune cells at higher levels, than in control brains.
- The brains of autistic people have fewer oxytocin receptors than the brains of unaffected people. Oxytocin is a hormone that has an influence on social behavior.
- There appear to be structural difference in the brains of people with autism, including differences in the number and size of neurons and the presence of inflammation.
Scientists hope to study the genetic functioning of brain cells and to understand the role of epigenetics (the modifying of gene behavior and the turning on and off of individual genes) in autism. They also need to study gene expression and changes specific to neurons, which can be seen only by examining brain tissue.
Brain research may also lead to the development of ways to influence the way the brain develops its connections in early childhood in order to reduce some of the difficulties experienced by people with autism. Scientists may also come to a better understanding of how brain structure relates to the special skills of some autistic people.