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Autism Speaks awards 47 new research grants funding

New York, N.Y. (December 21, 2011) Autism Speaks, the world's largest autism science and advocacy organization, today announced the awarding of 47 new research grants totaling $13,242,279 in funding over the next three years. Grants awarded this year not only respond to Autism Speaks funding priorities, but collectively move autism research forward toward improving diagnosis and treatment and quality of life for individuals with autism spectrum disorder (ASD). New this year is the Autism Speaks Translational Postdoctoral Fellowship Program, which encourages new investigators to enter into the field of ASD translational research translating laboratory findings to clinical practice. These fellowships are critical in developing their careers so that their work can make a lasting impact on the field of autism research.

"Suzanne and I are extraordinarily proud that this is the largest set of grant awards in Autism Speaks history," said Autism Speaks Co-founder Bob Wright. "These novel research projects have tremendous potential to open new avenues to understanding autism."

"The Autism Speaks research portfolio is the core of our support for individuals impacted with ASD and their families," added Autism Speaks President Mark Roithmayr. "We know that as families seek the best possible diagnosis, treatments and therapies for their loved ones, validated research is critical in giving families confidence and hope for improving the lives of individuals with ASD," he continued. "Without the incredible generosity of our community and corporate partners, and the funds raised at hundreds of Walk Now for Autism Speaks events throughout the year, this research and this level of funding would not be possible."

Studies will be funded to increase our understanding of environmental influences that may increase the risk of ASD among those who are genetically predisposed to the disorder; on biomarkers that may be useful for identifying infants at risk for developing ASD; and to improve early diagnosis in ways that can lead to earlier intervention and improved outcomes. The first U.S. autism prevalence study using total population sampling methods will be conducted, as current prevalence rates are based on reviews of records and may miss undiagnosed children and adults in the community. Funding this year will help create of the world's largest whole-genome library of individuals with autismthrough a historic collaboration with the Beijing Genome Institute. Animal models designed to identify brain pathways involved in autism will be used to test five compounds that may help restore healthier functioning to these brain pathways. Autism Speaks is funding studies on adult development, including research into sleep disorders, quality of life assessments and predictors of positive long-term outcomes in adults with ASD, and will update the economic cost of autism, including assessment of how particular services and supports may reduce lifetime costs. New methods will be developed to increase access to diagnosis and early intervention services in underserved, low resource communities in North America and around the world.

"These projects will make a real impact on the lives of people with autism and their families," states Autism Speaks Chief Science Officer Geraldine Dawson, Ph.D. "The wide range of outstanding projects we are funding will provide new and more accurate estimates of the prevalence and costs of autism, test new medicines that have the potential for alleviating core symptoms of autism, and innovative strategies for lowering the age of early detection and improving access to treatments in underserved communities."

Basic & Clinical Grants

Cell-based models have increasingly become centerpieces in translational research aimed at understanding basic mechanisms impacted by the growing number of autism risk genes. An innovative project featuring a stem cell model of 15q duplication syndrome from Eric Levine, Ph.D., from the University of Connecticut will receive a two-year pilot grant to study the functional and structural properties of synapses in patient-derived neurons. Cortical interneurons derived from genetically modified animals will feature in another two-year pilot grant awarded to John Rubenstein, M.D., Ph.D., from the University of California San Francisco studying the impact of transplanting these cells on a variety of behavioral endpoints. Klaus Hahn, Ph.D., from the University of North Carolina will utilize a mouse model of Angeleman syndrome to study the involvement of signaling pathways in specific molecular, cellular, and circuit deficits that may lie at the heart of ASD pathogenesis in another two-year pilot grant.

The importance of animal models as platforms for evaluating the therapeutic potential of experimental drug candidates will be studied in several three-year "full" grants. Two examples of projects focused on mutant mouse models of Rett syndrome include David Katz, Ph.D., from Case Western Reserve, who will investigate the effects of a novel small molecule TrkB agonist (LM22A-4) on sensorimotor gating and behavioral endpoints. Mustafa Sahin, M.D., Ph.D., at Children's Hospital Boston will use a different mouse model of Rett syndrome to examine neuronal connectivity in an effort to nail down the critical period for emergence of ASD-like phenotypes and sensitivity to treatment with rapamycin in a three-year grant. In an innovative project utilizing voles, Larry Young, Ph.D., of Emory University will study the mechanisms of action for oxytocin in social behaviors and seek to validate MC4R as a new drug target for social deficits in autism. Two-year pilot funding has been granted to Craig Powell, M.D., Ph.D., of the University of Texas Southwestern to collect preliminary data to establish the feasibility of reversing Shank3 mutant mice back to normal Shank3 after brain development is complete and identify which synaptic function differences and which behavioral differences are rescued.

Two projects will focus on epigenetic modification of gene function. The potential of epigenetics as a mechanism to explain gene and environment interactions in ASD will be addressed by Dani Fallin, Ph.D., of Johns Hopkins University, who received a full grant for three years to measure genome-wide DNA methylation in 600 individuals from the Study to Explore Early Development. The genome-wide distribution of a newly described type of epigenetic modification to DNA will be profiled in ASD in a project by Xuekun Li, Ph.D., from Emory University, in a two-year Pilot grant. Dr. Li has developed an innovative method for studying this potentially important form of epigenetic regulation.

Several studies focus on aspects of early behavioral risk for ASD. Judith Gardner, Ph.D., at the New York State Institute for Basic Research will receive a full grant with three years' funding to prospectively follow high-medical-risk NICU infants from birth to two years to characterize early neurobehavioral markers as risk factors for ASD. Also focusing on high risk infants, Martha Kaiser, Ph.D., at the Yale Child Study Center will receive a full three-year grant to examine very early development of the social brain utilizing functional near-infrared spectroscopy (fNIRS) in a prospective, longitudinal study of infants at high risk for developing autism. Patrick Bolton, Ph.D., of Kings College London will be funded for three years with a full grant in which he aims to better describe a genetic disorder (tuberous sclerosis) and determine whether those affected also have an ASD, either in terms of the broader autism phenotype or significant autistic traits. In conjunction with the Baby Siblings Research Consortium and the Autism Genetic Resource Exchange, Lonnie Zwaigenbaum, Ph.D. from the University of Alberta will take a genetic approach to assess the relationship between ASD-related gene copy number variation and symptom trajectories of at-risk infants between ages 6 and 36 months in a full grant funded for three years. Finally, a treatment study by Rebecca Landa, Ph.D., CCC-SLP, from the Kennedy Krieger Institute will be funded by a three-year full grant to examine the efficacy of a social enhancement intervention on social processing in toddlers with ASD.

To identify risk factors on a population basis, Brian Lee, Ph.D., at Drexel University will study a large, well characterized birth cohort in Sweden to examine whether early immune abnormalities may be associated with risk of ASD through a full, three-year grant. Paul Patterson, Ph.D., from California Institute of Technology will also receive a full, three-year grant to examine putative immune system involvement during fetal development in risk of developing autism by expanding his pioneering work in mouse models of maternal viral infection. A potential role for genetic defects in carnitine biosynthesis in risk for autism will be further explored in a two-year Pilot project awarded to Arthur Beaudet, M.D., at Baylor College of Medicine.

Four studies focus on the underserved population of adolescents and adults with ASD. Suzanne Goldman, Ph.D., FNP, BC, of Vanderbilt University is awarded a full three-year grant to investigate sleep behaviors in adolescents and young adults with autism and determine how sleep affects daytime behavior. Emily Simonoff, M.D., FRCPsych, of the Institute of Psychiatry, UK, and Marsha Seltzer, Ph.D., of the Waisman Center, University of Wisconsin, both receive full three-year grants to improve our understanding of the quality of life and outcomes for individuals of adults with ASD by tracking and characterizing different cohorts of adults who had previously been diagnosed during adolescence. A two-year pilot project is funded for J. Paul Leigh, Ph.D., CHPR, at the University of California Davis to focus on the economic burden created by ASD in current and future adult populations.

Basic & Clinical grants include both full grants which support researcher projects over three years based on the specific project scope and budget, and pilot grants which fund researchers for two years at a set funding rate of $60,000 per year. Grants were selected which focused on innovation, research strategy, and relevance of the topic to Autism Speaks research priority areas.

Postdoctoral Fellowships in Translational Autism Research

2011 is the inaugural year of the Autism Speaks Translational Postdoctoral Fellowship Program funding a total of $1,266,289 over two-years. The Translational Postdoctoral Fellowship seeks encourage new investigators to enter into the field of ASD translational research by providing funding for multidisciplinary training with at least two mentors. The fellows receive a stipend that varies according the years of experience of experience after their doctoral degree (based on the NIH scale) and a modest research expense allowance.

This first class of Translational Postdoctoral fellows will investigate a variety of innovative human neuroimaging approaches. Nicolaas Puts, Ph.D., at Johns Hopkins will focus on adapting magnetic resonance spectroscopy (MRS) to non-invasively characterize changes in brain neurochemistry associated with autism in pediatric populations. Isabelle Buard, Ph.D., from the University of Colorado Denver will also utilize MRS, but in combination with magnetoencephalography to define motor-specific features that are impaired in autism. In another integrative approach, Adam Naples, Ph.D., from Yale will concurrently measure eye movement and electrical brain activity (EEG) to study responses during simulated reciprocal social interactions. Using Diffusion Tensor Imaging, Rebecca Jones, M.Phil., from Weill Cornell Medical College seeks to examine behavioral and neural underpinnings of learning as predictors of response to intervention in young children. Daniel Campbell, Ph.D., from Yale addresses the critical need for solid statistical methods to ensure the success of imaging approaches. His project expands the development of novel techniques for predicting diagnostic outcome from a variety of different imaging and clinical data sources.

Translation works in both directions from the proverbial bench to beside and back to the laboratories. Additional grants fund the work of Post Doctoral Translational Fellows who will focus on characterizing animal models that were informed by human genetic risk factors identified for autism. Olga Penagarikano, Ph.D., from the University of California Los Angeles will expand the characterization of the CNTNAP2 knock-out mice, including evaluation of novel drug candidates. A novel electophysiological approach will be employed by Dr. Joao Peca from the Massachusetts Institute of Technology to study the neural circuitry underlying ASD phenotypes in the Shank3 mouse, a model of Phelan McDermid Syndrome. Portia McCoy, Ph.D., of the University of North Carolina Chapel Hill will examine the effects of a novel drug candidate, UNCilencer1, in reversing synaptic plasticity deficits in the UB3EA mouse model of Angelman syndrome. These projects have the potential to interpret the biological underpinnings of autism, which can be translated back to the bedside.

A variety of other fellowship projects were recommended for consideration. These include a project from Allison Knoll, Ph.D., of the University of Southern California, who has proposed studies in both mice and humans aimed at understanding the role oxytocin, vasopressin, and mu opioids in shaping early social learning and brain development. Haim Belinson, Ph.D., at University of California San Francisco will work to expand work identifying genomic factors that participate in the putative cortical abnormalities ("patches") recently reported by Eric Courchesne's lab. Melis Inan, Ph.D., at Weill Cornell Medical College will look at the role of candidate autism related genes on mitochondrial dynamics and functioning of PV+ cortical interneurons. Brandon Keehn, Ph.D., at Children's Hospital Boston will be studying how measures of novelty processing, arousal, and joint attention correlate with the development of disengagement abilities to determine the impact of early attentional function on the development these processes.


Contact: Adam Pockriss
Autism Speaks

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