World Autism Awareness Day

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Autism affects nearly 1 in 88 children

(Centers for Disease Control)

The Brain & Behavior Research Foundation has funded nearly $300 million in NARSAD Research Grants to understand the causes and improve treatments for mental illness. Researchers funded by NARSAD Grants utilize the latest in new technologies to understand the brain and work to develop diagnostic tools, early intervention techniques and the next generation of therapies.

Funding work across a broad range of psychiatric disorders, $8 million in grant funding since 1990 has been dedicated to autism research. More than 119 researchers have been supported with NARSAD Grants to improve the lives of those with autism.

Cure Autism Fairy by Courtney Benton
Courtney Benton is an autistic artist who lives in Michigan. She draws and creates fairies to help people with special needs. She created the Autism Fairy to help the Brain & Behavior Research Foundation defeat autism.

Examples of autism advances funded by NARSAD Grants:


Foundation recognized two leading autism experts with 2012 Ruane Prize for Outstanding Achievement in Child and Adolescent Psychiatric Research:

Dr. Matthew State of UCSF: Dr. Daniel Geschwind of UCLA:

Dr. State represents a rare combination of a clinically trained child psychiatrist who also has received a Ph.D. in genetics. His research centers on the search to discover genes related to neuropsychiatric and neurodevelopmental disorders of childhood and is recognized as one of the most outstanding scientists in the discovery of rare genetic variants as risk factors for autism. Applying rapidly evolving technologies of molecular genetics, his work is helping to illuminate the molecular and neurobiological underpinnings of these disorders toward the goal of translating research findings into new and more effective treatments.
Learn more about Dr. State's prizewinning research
.

Matthew State, M.D., Ph.D.
University of California, San Francisco
Chair, Department of Psychiatry
Director, Langley Porter Psychiatric Institute

In addition to his fundamental quest to understand the genetic basis of human higher cognition, Dr. Geschwind is working to develop effective, targeted therapeutics for brain and behavior disorders such as autism.
Learn more about Dr. Geschwind's prizewinning research
.

Dr. Geschwind will also be one of the speakers at the 2012 Discovery to Recovery: A Path to Healthy Minds Mental Health Conference in Los Angeles on April 30, 2013. Learn more about the conference.

Daniel Geschwind, M.D.
University of California, Los Angeles School of Medicine
Gordon and Virginia MacDonald Distinguished Chair in Human Genetics
Professor, Neurology and Psychiatry
Director, Neurogenetics Program and the Center for Autism Research and Treatment (CART)
Co-director, Center for Neurobehavioral Genetics

Meet some current NARSAD Grantees working on autism research:

Peter G. Enticott, Ph.D., Monash University (Australia)
In this project, Dr. Enticott will work with a sample group of adults with ASD who will receive repetitive transcranial magnetic stimulation (rTMS), either active or placebo, directed at a brain region involved in understanding others' thoughts and feelings. They will be assessed over various time intervals to determine whether rTMS has improved their social relating ability, and whether improvements can be maintained over time.

Irina Voineagu, M.D., Ph.D., Riken Omics Science Center, Japan
In a recent study, Dr. Voineagu demonstrated there are shared abnormalities in a large subset of ASD cases, at the level of gene expression. Using a next-generation RNA sequencing approach to analyze postmortem brain tissue from ASD cases and matched controls, she hopes to identify specific gene expression dysregulation in the ASD brain. This finding would contribute significantly to the design of targeted therapeutic approaches for ASD.

Kelly Anne, Ph.D., National Institute of Mental Health
Functional connectivity MRI is a technique that examines the coupling between neural activity in different brain regions. Such coupling is atypical in ASD, and measures of functional connectivity correlate with differences in symptom expression. Dr. Barnes will use functional connectivity MRI data to predict subsequent measures of symptom expression and adaptive behaviors, and to establish guidelines to provide a detailed understanding of the relationship between neural circuitry and long-term outcomes in ASD. She hopes to identify those patients who might benefit from interventions.

Mikail Rubinov, Ph.D., University of Cambridge, England
Dr. Rubinov will use cutting-edge neuroimaging and data analysis methods to accurately reconstruct complex brain networks, or connectomes, and to detect abnormalities of these networks in adolescent patients with autism and in their siblings. The detection of such abnormalities could result in objective diagnostic markers of autism. Objective markers should play an important role in providing individuals with more accurate information about their disease outcomes and may inform the choice of autism treatments in the future.

Stephanie L. Barrow, Ph.D., University of California, Davis
Dr. Barrow is exploring the convergence of immune and genetic signaling pathways in ASD and schizophrenia. The identification of a common pathway affected in both disorders as a result of genetic mutations and environmental exposures could have significant implications for the treatment of both disorders.

Shu-Ling Chiu, Ph.D., Johns Hopkins University
Autistic-like behavior was observed in mice in which the GRIP1 gene, important for regulating synaptic transmission, was ‘knocked out,’ or deleted, and mutations similar to GRIP1 were found in autistic patients. GRIP1 is allied with another gene called GRASP1 and Dr. Chiu’s research will explore how GRASP1 works in the GRIP complex to affect synaptic transmission and the molecular and cellular mechanisms underlying autism spectrum disorders.

Zhanyan Fu, Ph.D., Duke University
Shank3 mutant mice are mouse models of ASD. Dr. Fu will test the hypothesis that Shank3 disruption has differential effects on certain glutamatergic synapses. The goal is to generate a novel mouse model of ASD harboring the deleterious Shank3 mutations from human patients with ASD, in order to yield clinically relevant insights into the underlying mechanism of human ASD and related disorders.

Daniel P. Kennedy, Ph.D., California Institute of Technology
In an initial exploration of anatomical features that underlie altered brain activity in autism, Dr. Kennedy will investigate, from a whole- brain perspective, whether communication across the cerebral hemispheres is disrupted as compared to communication within a hemisphere, and also whether those brain regions with altered connectivity are the ones that do not function properly in autism.

Isabelle Souliéres, Ph.D., Hospital Riviere-des-Prairies, University of Montreal, Canada
Dr. Souliéres intends to examine the neural network involved in visuo-spatial expertise in autistic individuals, assess the coordination of neural activity among the regions included in this neural network and investigate the integrity of white matter connections between regions involved in visuo-spatial processes in autistic and non-autistic individuals.

Natalia V. de Marco Garcia, Ph.D., New York University
Recent research strongly implicates abnormal glutamate function in schizophrenia. Using a mouse model, Dr. de Marco Garcia will look into the role of a particular receptor called NMDA, which is associated with the system that regulates the glutamate neurotransmitter system. The project will also assess how a blockade in signaling through the NMDA receptor may give rise to schizophrenia-like symptoms.

Mark Christian Eldaief, M.D., Harvard University
Dr. Eldaief and team will compare repetitive transcranial magnetic stimulation (rTMS)-induced effects in people with ASD and healthy controls. They have shown that rTMS can change the strength of connections in neural networks that shape learning and memory. This research could advance understanding of ASD mechanisms, which could help diagnose disease and possibly pave the way for rTMS use to correct ASD network abnormalities.

Avniel S. Ghuman, Ph.D., University of Pittsburgh
Reduced long-distance brain connectivity in ASD is believed to contribute to cognitive pathologies. Dr. Ghuman will use magnetoencephalography to examine the dynamics of connectivity between critical regions of networks involved in sensory and auditory processing, and assess how this may relate to social and cognitive impairments in ASD.

Yun Li, Ph.D., Whitehead Institute for Biomedical Research
Using the newly-developed TALEN technology, Dr. Yi has generated novel stem cell models of Rett and Fragile X syndromes (FXS) in human cells. Neural and glial cell types will be subjected to extensive phenotypic characterization with respect to structure, electrophysiology, transcription, translation and intracellular signaling. Findings may provide critical insights into the pathogenic mechanism of Rett and FXS in human cells, and could serve as a platform for future therapeutic identification efforts that could lead to treatments.

Michael E. Talkowski, Ph.D., Massachusetts General Hospital and Harvard University
A striking number of genes associated with a spectrum of neuropsychiatric disorders (NPD) were found to be disrupted in subjects with ASD and related neurodevelopmental disorders (NDD). Employing innovations in sequencing and bioinformatics developed during his postdoctoral research, Dr. Talkowski seeks to prove that careful genomic approaches can elucidate locations at which some genetic changes confer risk for NPD and NDD.

Michael J. Higley, M.D., Ph.D., Yale University
Using optogenetics, Dr. Higley will measure the actions of inter- neurons on their synaptic targets to find out how synaptic inhibition is modulated by dopamine and how its dysregulation may be an important factor in schizophrenia. He will also examine dopamine and inhibition in synaptic plasticity—a disruption of which likely represents a key pathology associated with schizophrenia.

Devanand S. Manoli, M.D., Ph.D., University of California, San Francisco
Pioneering work in the prairie vole has identified Oxytocin (OT), a neuropeptide and hormone, as a critical mediator of pair bonding. Strikingly, OT and OXTR, the human OT receptor, have also been implicated in social-attachment-type behaviors in humans. Disruptions in the OT axis have been correlated with numerous psychiatric disorders. Dr. Manoli plans to test the genetic requirement of OTR (a target gene) in pair bonding in voles.

Sergiu P. Pasca, M.D., Stanford University
Dr. Pasca and his team have generated pluripotent stem cells (iPSCs) from a cohort of patients with chromosome 22 (22q11.2) deletion syndrome (22q11DS), with a diagnosis of schizophrenia or autism, and with no psychiatric diagnosis. In prior work they have generated neurons from some of these cells and identified defects in dopamine signaling. They will now extend this initial characterization by studying other aspects of neuronal development and signaling in 22q11DS neurons and by characterizing dopamine signaling in neurons from additional 22q11DS patients. The goal of this project is to develop in vitro models of psychiatric disease and to identify new therapeutic targets.

Heather E. Ross, Ph.D., Emory University
22q11DS, also known as DiGeorge syndrome, is the second most common childhood genetic disorder after Down syndrome. Dr. Ross seeks to determine several fundamental characteristics of 22q11DS including fully characterizing the immune dysfunction outcomes and examining how immune changes contribute to structural and functional brain abnormalities as well as atypical behavioral development.