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Autism BrainNet
Spring 2017 Newsletter
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David Amaral, PhD
Director, Autism BrainNet
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Letter from the Director
We hope that you have all weathered the winter ice and snow and are looking forward to the warmth of Spring and Summer.
Autism BrainNet had a very productive year in 2016. There were a total of 42 donations in 2016 bringing the total number of donation to 81 since we began operations in May of 2014. Thirty-one of the donations were from people who had autism during life, 41 were from typically developing people whose donations are used for comparison and 9 donations were from individuals who had genetic or other characteristics important to autism research. While this is more donations than have been achieved by any other effort previously, it is still not enough to help us understand the complexities of autism. As you'll read in other sections of this Newsletter, it now appears that the brains of individuals with autism may have different genetic alterations than are observed in blood. And, different people with autism are showing different alterations! This means that we need a large number of donations to make sense of this complexity. The goal of this understanding is to have clearer targets for drug treatment to help reduce the disabilities of autism.
At the end of last year, the Simons Foundation took over total financial responsibility for Autism BrainNet. We are very appreciative of the support and ongoing guidance provided by the Simons Foundation team including Dr. Marta Benedetti, Dr. Louis Reichardt, Dr. Gerry Fischbach, Ms. Marion Greenup and Ms. Deborah Hertz. We are also appreciative of the folks at the Autism Science Foundation, Ms. Alison Singer and Dr. Alycia Halladay for leading the outreach effort.
Finally, if you would like to read a summary of current thinking about the causes of autism, you might check out a piece that I wrote for the Dana Foundation. You can find it
here
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Also, we have recently written about our studies on the consequences of having autism and a big brain. You can find that article
here.
Thanks again for your support and please feel free to provide your thoughts on how we can make Autism BrainNet better!
David Amaral
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Common Gene Signature Found in Brain Tissue
In the largest study yet of postmortem brain tissue in autism, researchers at UCLA were able to compare the patterns of gene expression from individuals with autism across the spectrum of symptoms and across the known causes. Looking at over 1000 genes that are expressed differentially in autism brains compared to control brains, they used a computer program to detect what the patterns of expression may mean. The expression of some genes were increased, some were decreased. The genes that showed altered expression were a type of gene that does not code for proteins; they code for the activity of other genes. They are called long noncoding RNAs. These genes were previously thought to have no role at all, but their role in autism is becoming more and more apparent.
With multiple genetic and environmental contributors to autism, the researchers had to be confident that this was a finding that was generalizable to different causes of ASD. So they compared their findings in those with an unknown cause of autism to those with a genetic mutation that led to the diagnosis. They found the same pattern. This means that despite all the differences of people with autism, there are similarities that are important. Also, genes that help control brain development and the connections between neurons early in life are abnormally quiet. This research may lead to more targeted interventions of the disabilities of autism.
You can read more details about the study and its findings here.
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Jerzy Wegiel, PhD
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Spotlight on Scientists: Jerzy Weigel, PhD, Institute of Basic Research, Staten Island, NY
Dr. Jerzy Wegiel from the Institute of Basic Research (IBR) in Staten Island started working in autism research in 2002, mostly because of Autism BrainNet. Previously focused on Downs Syndrome, the Autism BrainNet allowed IBR to study autism spectrum disorder as well. Given the role of IBR in groundbreaking discoveries that have helped so many children with disabilities, their involvement in autism research is crucial. These findings include the discovery of phenylketonuria (PKU) and its treatment, which practically eliminated PKU-related disabilities. IBR was also instrumental in identifying a taurine deficit in infants which led to blindness, which is now prevented through the supplementation of taurine in baby formulas.
Dr. Wegiel's research focuses on studying the individual cells in different parts of the brain in
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Dr. Jerzy Wegiel and colleagues
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autism. He notes that there has been a dramatic shift in thinking over the past 14 years thanks to Autism BrainNet. Instead of studying brain regions in isolation at different ages, scientists' understanding has moved more towards integration of different brain regions that change as a person with autism gets older. Because of Autism BrainNet, his lab has been able to study changes that occur from childhood to middle to late adulthood. In addition, complementary to Dr. Dan Geschwind's recent report (see above), autism cases, despite the cause of the diagnosis of ASD, show common changes in how cells connect to each other early on and how they maintain those connections later in life.
Dr. Wegiel notes that a specific strength of Autism BrainNet is the ability to work with different researchers with different ideas while maintaining scientific integrity. "Without the evolution of Autism BrainNet, and their flexibility in thinking about autism, discoveries that affect families with autism today may not be possible." We thank Dr. Wegiel for his commitment to understanding autism spectrum disorder.
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Meet the Briesch Family
Chris and Jill Briesch are long-time Texas residents who currently live in Dallas, TX with their two sons, Alexander and William. Their older son, Alexander, was diagnosed with autism at age 2. This diagnosis propelled the Briesch's into the world of intensive evidence-based intervention and advocacy. Tax accountants by trade, they vowed to learn everything they could about autism and what they could do for their son.
When their son William began showing early signs of autism at 6 months old, Jill fought to get William into early intervention programs. William received intensive early intervention for two years until it was deemed no longer necessary. He now attends his neighborhood preschool and loves playing on his Pre-K soccer league. Big brother Alexander received intensive therapy for more than four years and is now thriving in his general education kindergarten class and playing recreational sports.
This is not the end of their journey. Jill is an advisor for insurance supports in Texas, where, like in many states, coverage for autism-related services is an ongoing struggle. The Briesch's have become a massive presence in the autism community, supporting local and national programs including Autism Speaks and Easterseals, conducting parent resource talks and being a friend to every family who needs support and help.
You can learn more about Jill here.
When approached about participating in Autism BrainNet, their support was unwavering. "We promised our son we would change the world for him and others with autism." Jill explains. "Committing to donate our brains to research that will help us understand more about autism and develop meaningful treatments is a vital part of how we are keeping our promise." While for some it can be a difficult topic to discuss, the Briesch's talk openly and honestly about their commitment to research.
The Briesch's were also featured on a local news story about the Autism BrainNet found here.
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Free Webinar: Understanding the Genetics and Epigenetics of Autism by Looking at the Brain
Friday, April 28, 2017
12:00-1:00PM EDT
Neelroop Parikshak, PhD
UCLA
David Geffen School of
Medicine
UCLA
Center for Autism Research and
Treatment, and
lab
of Daniel H.
Geschwind
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This webinar is part of the AutismBrain Net Webinar Series.
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Dr. Neelroop Parkishak from the lab of Dr. Daniel Geschwind at UCLA
will
present a summary of findings which look at the simultaneous activity of several genes together, rather than separately, to identify common
biological mechanisms across the causes of autism. He
will show
that despite
different causes
of ASD,
brain tissue research reveals that there
are common biological mechanisms which may be the target of newer interventions
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Free Webinar: Investigating Gene x Environment Interactions in "Single Gene Autisms"
Thursday, May 4, 2017
1:00-2:30PM EDT
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Janine LaSalle, PhD
Associate Director of Genomics, Genome Center
Professor, Medical Microbiology and Immunology
MIND Institute
University of California, Davis
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Keith Dunway
Genetics Graduate Student
University of California, Davis College of Biological Sciences
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Around 5-10% of autism cases are caused by mutations of highly penetrant genes.
It
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This webinar is jointly supported by the Environmental Epigenetics of Autism Series and the Autism BrainNet. |
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 will highlight the opportunities in studying gene x environment interactions in cases of "single gene autisms."
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Out and About with the Autism BrainNet
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| Jessica Brownfeld represented the Autism BrainNet at the Current Trends in Autism Conference last month. |
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Ursitti Family Featured on IAN
The Interactive Autism Network recently featured the Ursitti family, an Autism BrainNet Ambassador Family, in a story about their choice to donate their brains and the importance of brain research. Judith Ursitti is a champion of this cause, and we are grateful for the support from this wonderful family!
Click here to read the story.
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