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Transcriptome Analysis Reveals Dysregulation of Innate Immune Response Genes and Neuronal Activity-Dependent Genes in Autism

Date Published: 
December 10, 2014

Using resources from the Autism BrainNet, a new study in brains affected by autism revealed a common factor of activated immune cells. Led by Dr. Dan Arking at Johns Hopkins, the project analyzed dats collected from 72 individuals, both with and without autism The findings compared gene expression across these two groups and from different brain banks. It also utilized a large dataset that contains data on existing autism risk genes. This represents the largest dataset so far in studying gene expression in the brains of autism. Previous studies have been too small to make meaningful conclusions, because of the lack of tissue available.

The team, which also included the University of Alabama at Birmingham, saw that in individuals with ASD, a type of immune cell called microglia was always active, with genes for inflammation always being turned on. Arking noted that he did not think that the inflammation itself as the root cause of autism, but that it is the marker of a downstream effect.

“This type of inflammation is not well understood but it highlights the lack of current understanding about how innate immunity controls neural circuits,” Dr. Andrew West, associated professor of neurology at the University of Alabama at Birmingham said.

Autism Science Foundation Announces Second Annual Day of Learning and Evening of Celebration


Event will feature the 2nd annual Autism TED-style Talks with Former First Lady Rosalynn Carter & NIMH Director Dr. Thomas Insel.

Contact: Meredith Gilmer                                                                                           For Immediate Release
Email: mgilmer@autismsciencefoundation.org                                                                  December 10, 2014

Event will feature the 2nd annual Autism TED-style Talks with
Former First Lady Rosalynn Carter & NIMH Director Dr. Thomas Insel

(December 10, 2014—New York, NY)  Today the Autism Science Foundation announced plans for its second annual Day of Learning & Evening of Celebration; a full day of events to take place on April 22, 2015 at the New York Athletic Club.

On the afternoon of April 22, ASF will host a festive luncheon, followed by the autism community’s second annual TED-style science conference, featuring talks from Former First Lady and Mental Health Advocate Mrs. Rosalynn Carter, NIMH Director Dr. Thomas Insel, Dr. Matt State (UCSF), Dr. Marsha Mailick (Univ of Wisconsin), Dr. Kevin Pelphrey (Yale), and PBS/NOVA Executive Producer Paula Apsell.  These TED-style talks will be thoughtful, 15-minute distillations of critical issues in autism and mental health.  “This event was such a huge success last year that we couldn’t wait to plan it again,” said Alison Singer, president of the Autism Science Foundation. “Our speakers will focus on the real issues facing families, such as gender differences in diagnosis and treatment, genetic testing, adult outcomes, caring for the caregivers, the effectiveness of workplace interventions, and the challenges of communicating science to the public.

That evening ASF will host its annual fundraising gala, during which the foundation will honor three leaders in autism science: Dr. Thomas Insel, Director of the National Institute of Mental Health, will receive the Distinguished Scientist Award; Gregg and Lori Ireland will receive the Distinguished Advocate Award; and the Media Impact Award will be presented to PBS, NOVA, Tangled Bank Studios and Genepool Productions for its documentary “Vaccines- Calling the Shots.”  Dr. Richard Besser, Chief Medical Correspondent for ABC News, will serve as emcee for the evening, which will feature a cocktail reception and dinner.  The evening will also include a silent auction and entertainment by teens and adults with autism, including Philadelphia-based musician Tommy Bak.

Proceeds from the day’s events will benefit ASF’s pre- and post- doctoral autism fellowship programs, which support early career research conducted by the nation’s most promising young autism scientists. 

For sponsorship information or to join the benefit committee contact Casey Gold at 212-391-3913 or cgold@AutismScienceFoundation.org or visit www.autismsciencefoundation.org.

Registration for the Day of Learning will open at the end of January.

The Autism Science Foundation (ASF) is a 501(c)(3) public charity. Its mission is to support autism research by providing funding to scientists and organizations conducting autism research. ASF also provides information about autism to the general public and serves to increase awareness of autism spectrum disorders and the needs of individuals and families affected by autism.

To learn more about the Autism Science Foundation’s programs visit www.autismsciencefoundation.org

Future of Autism Genetics Should Learn from its Past

Simons Foundation Autism Research Initiative
Date Published: 
December 9, 2014

The results of sequencing studies are helping autism researchers narrow down what genes to look for and where. They can now put forth a statistically sound estimate of the overall genetic contribution of de novo mutations of different categories to autism. However, they still cannot pinpoint the causal mutations for many cases of autism because the genomic background noise remains high.

Snippets of RNA May Reverse Symptoms of Angelman Syndrome

Simons Foundation Autism Research Initiative
Date Published: 
December 4, 2014

Small pieces of RNA restore the expression of a key gene missing in Angelman syndrome and offer the promise of a highly specific cure, researchers reported Monday in Nature. Injecting these RNA snippets into the brains of mice missing one copy of this gene, called UBE3A, reverses their memory problems.

George Washington University Seeks Director of the Autism & Neurodevelopmental Disorders (AND) Initiative

George Washington University
Date Published: 
December 2, 2014

The George Washington University (GW) is seeking an exceptional research scholar for the position of AND Director and Professor endowed by The Carbonell Family Professorship in Autism and Neurodevelopmental Disorders (AND). The Director will play a principal role in defining specific goals in the areas of research, treatment, and policy, and will help develop partnerships, implement strategies, and oversee organizational structures ensuring the achievement of these goals. The successful candidate may receive a secondary appointment in an affiliated academic department based on credentials and approval.

For more information and to apply, please visit https://www.gwu.jobs/postings/24907

Questions may be sent to autism@gwu.edu

Autism Science Foundation Announces 2014 Research Enhancement Grant Recipients

Five projects to be funded

(November 19, 2014 -- New York, NY)—Today, the Autism Science Foundation, a not-for-profit organization dedicated to funding autism research, announced the recipients of its second round of research enhancement mini grants.  These grants are intended to enable researchers to expand the scope or increase the efficiency of existing grants, or to take advantage of changes or findings that have occurred in or around a research project that warrant more funding.  Five projects were selected for funding.

"This funding mechanism is a unique opportunity for autism research.  Instead of starting new research from scratch, it provides resources for ongoing studies to rapidly exploit new opportunities, build their sample size, add an additional outcome variable, or speed the pace of research,” said Autism Science Foundation Chief Science Officer Alycia Halladay.  “This allows research to move more efficiently, providing faster answers for the community.”

The following projects were selected for enhancement grant funding:

Dara Chan, ScD, University of North Carolina
Understanding Adult Service Needs in the Community Using GIS Technology 
Because the number of people diagnosed with autism is increasing, there is a significant need to understand and prepare for the resources needed by adults with ASD.   Unfortunately, there is little scientific research in this area. The largest prospective study of people with autism through middle adulthood to date is being undertaken at the University of North Carolina.  This study is looking at outcomes in middle adulthood of people with ASD and also examining the association between childhood functioning (autism severity, IQ, adaptive functioning) on these outcomes.  The goal is to understand how these variables can predict quality of life, employment, friendships and residential settings. This additional funding will incorporate a technology called Geographic Information Systems, or GIS, into the study. By doing so, the results will more accurately identify the distance between home and services, and how they relate to areas of functioning.  It will also provide information about what services are being utilized by whom, and where, so that data can be gathered to improve services for adults in both rural and urban settings.

Karen Chenausky, MS, CCC-SLP, Boston University
Markers of Early Speech Development in Children At-Risk for Autism
Children with autism often exhibit very subtle and very mild behaviors before full blown symptoms develop.  One way to study these early signs and symptoms is to follow infants at high risk for an ASD diagnosis and carefully monitor their development in a number of domains.  One of these is domains is speech. There can be very, very small differences in early vocalizations that persist to when babies can start forming vowels.   The difference in the way infants with ASD pronounce vowels may not be able to be heard by the human ear, but it can be distinguished using other methods.  Ms. Chenausky will take already collected data in a high risk infant development study and use this new funding to collaborate with experts in acoustics and speech to study very early differences in vowel production. While these early and specific changes in speech may not problematic on their own, without speech therapy, they may lead to larger speech and language deficits.  Therefore, these findings may lead to a way to detect changes leading to earlier intervention and better outcomes for those at risk for ASD.

Jennifer Foss-Feig, PhD, Yale University
Novel Methods to Understand the Brain Connectivity in Autism
PI: James McPartland
One theory to explain the causes and symptoms of ASD is an imbalance between excitatory and inhibitory signals in the brain.  Some brain cells may be too turned on, or not turned on enough.  As a result, signals may not be relayed across the brain properly, including in areas associated with ASD, resulting in autism symptoms.  This may explain some of the behavioral features of ASD, but this theory has not been demonstrated with data.   Dr. Foss-Feig will engage participants on a number of behavioral tasks, and at the same time, non-invasively measure brain activity in real time to look at how different regions are connected.  The new funding will be used to build on a study of this mechanism in schizophrenia and apply the methods to study autism. This will also allow the researchers to better understand the differences and similarities between autism and schizophrenia, so new treatment strategies, including pharmacologic therapies, can be tested.

Connor Kerns, PhD,  Drexel University
Validation of an Instrument to Improve Measurement of Anxiety in Autism
Anxiety disorders are present in up to 80% of youth diagnosed with autism spectrum disorders, but the nature of anxiety in ASD is not well understood.   The symptoms of anxiety may be difficult to separate from symptoms of autism. This is especially true of atypical fears and worries – which could be part of anxiety or autism or possibly both.  An instrument designed and validated to differentiate and comprehensively assess symptoms of anxiety in ASD is needed.  The ADIS is currently the ‘gold standard’ in assessing anxiety in children, but requires adaptation to differentiate and assess the full range of anxiety symptoms apparent in ASD. This study will provide resources to validate the Autism Spectrum Addendum (ASA) to the Anxiety Disorders Interview Schedule (ADIS).  Clarifying the differential diagnosis of anxiety and ASD symptoms and assessment of atypical fears via a validated instrument has important implications for research and clinical practice – including proper treatment and intervention strategies for people with ASD and anxiety problems.

Leena Malik, Washington University in St. Louis
Studying Williams Syndrome to Better Characterize Early Social Behavior in ASD
PI:  John Constantino
This project will expand an ongoing study led by Dr John Constantino, which is developing two ways to quantify social behavior in young children.   Currently, typically developing children, children with autism and children at risk for autism are included.  However, funding for this project will allow the researchers to collect data on individuals with Williams Syndrome (WS).  In contrast to people with ASD, people with WS are intensely social, even from an early age.  Interestingly, while their behaviors are different, they share certain genetic markers with some people with autism. Therefore, including this comparison group will not only improve the accuracy of the instruments, but also better characterize the contribution of these genes to social behavior.

The Autism Science Foundation is a 501(c)(3) public charity. Its mission is to support autism research by providing funding to scientists and organizations conducting autism research. ASF also provides information about autism to the general public and serves to increase awareness of autism spectrum disorders and the needs of individuals and families affected by autism. To learn more about the Autism Science Foundation or to make a donation visit www.autismsciencefoundation.org.  


Contact Information:  
Casey Gold

Explaining the Increase in the Prevalence of Autism Spectrum Disorders: The Proportion Attributable to Changes in Reporting Practices

Date Published: 
November 3, 2014

The prevalence of autism spectrum disorders has increased markedly in recent decades, which researchers have suggested could be caused in part by factors such as changes in diagnosis reporting practices. This study in Pediatrics sought to quantify the degree to which changes in reporting practices might explain this increase. Danish national health registries have undergone a change in diagnostic criteria in 1994 and the inclusion of outpatient contacts to health registries in 1995, thus Danish prevalence was studied. The study found that changes in reporting practices can account for most (60%) of the increase in the observed prevalence of ASDs in children born from 1980 through 1991 in Denmark, which supports the argument that the apparent increase in ASDs in recent years is in large part attributable to changes in reporting practices.

Massive Sequencing Studies Reveal Key Autism Genes

Simons Foundation Autism Research Initiative
Date Published: 
October 29, 2014

Analyzing the sequences of more than 20,000 people, researchers have unearthed the largest and most robust list of autism genes so far, they reported in the journal Nature.These 50 ‘high-confidence’ autism genes may help researchers understand the biological underpinnings of autism. The researchers found these genes by scouring the exomes, the protein-coding regions of the genome, looking for rare genetic glitches unique to people with autism.

Whole-Genome Sequencing Reveals New Types of Autism Risk

Simons Foundation Autism Research Initiative
Date Published: 
October 20, 2014

Much of the genetic risk for autism may reside in regulatory regions of the genome, hidden from traditional methods of sequencing analysis. That's the upshot of preliminary results from three studies presented at the 2014 American Society of Human Genetics Annual Meeting in San Diego. Together, the findings from these new studies show the promise of looking for autism risk in unusual places.

Sex/Gender Differences and Autism: Setting the Scene for Future Research

Journal of the American Academy of Child & Adolescent Psychiatry
Date Published: 
October 17, 2014

A group in the UK conducted an exhaustive literature search surrounding current studies on sex and gender differences and autism spectrum disorders. This literature search grouped studies into four categories, focusing on behavioral features, diagnosis and disparity issues, causes of disparity, and developmental trajectory. These same topics will be discussed on October 29 at the Sex and Gender Differences in ASD science workshop in New York, sponsored by the Autism Science Foundation and Autism Speaks.