Autism Consortium, Boston, MA
2007-2009

Autism Consortium Family and Clinician Support

As the Autism Consortium embarks on a Boston-wide research endeavor to develop a greater understanding of the etiology and treatment of autism spectrum disorders (ASDs), this grant will enable the Consortium to provide care and support to the families and clinicians involved in their research. Through the Family Support component of this project, the Autism Consortium will provide several participating Boston-area institutions with Autism Family Resource Specialists who will provide support to families grappling with the diagnosis of autism. The Resource Specialists will be trained in how to support families dealing with the feelings that accompany a diagnosis of ASD, and how to educate others at their institutions. The Resource Specialists will provide educational materials to families including research program information. In addition, Resource Specialists will provide consultation/coaching, set up parent-to-parent support programs, and arrange topical seminars. The Resource Specialists will thus provide critical continuity with families from the time of diagnosis over the course of the research program. Through the Clinician Support component of this project, the Consortium will provide support for quarterly meetings of participating clinicians to share best practices, raise issues or concerns about the research program, learn about emerging research findings, and identify opportunities for research and improved care.

The Autism Consortium

Beth Israel Deaconess Medical Center , Boston , MA

2007-2010

Principal Investigator: Matthew Anderson, MD, Ph.D.

Innate Immunity and Thalamic Dysfunction in Autism

Sensory processing defects are a prominent feature of autism with descriptions of an over-reaction to noise, light, and touch and increased pain thresholds. The thalamus is the gateway of these sensory signals and recent reports indicate a marked suppression of thalamic metabolic activity in autistic children. Other studies reported excessive brain growth during the early life. The cause of these functional and structural brain abnormalities and resulting behavioral impairments remain unknown. A clue may be the recent finding of inflammation-activated glia in most autism brains. The inflammation was composed of glial cell growth and peptide secretion. Neurons perform the signal transmission and computations unique to the brain, while glial cells support these neuron functions. Resting glia provide structural and metabolic support to neurons improving their signaling properties. The effect of inflammation-activated glia on neurons is largely unknown. This project seeks answers to this question to understand what influence the inflammation-activated glia found in autism might have on the brain of individuals suffering from autism.

The Laboratory of Matthew Anderson

Brandeis University , Waltham , MA

2007-2017

Principal Investigator: Stuart Altman, Ph.D.

The Creation of the Lurie Institute for Disability Policy and the Lurie Chair in Disability Policy at the Heller School for Social Policy and Management

The Foundation has provided a grant to Brandeis University to help create the Lurie Institute for Disability Policy and endow a professorship at the Heller School for Social Policy and Management. The Lurie Institute for Disability Policy will conduct research on disability policy in the United States with a special emphasis on autism, focusing on the lifespan of persons with disabilities and their families. The Institute will explore how human services and public benefits are provided to persons with developmental disabilities and their families and also how persons with disabilities can become self-advocates. The Lurie Institute will train the next generation of researchers at the doctoral level and policy makers at the doctoral and master's levels. It will offer courses on disability policy to undergraduates, raising their awareness of and interest in careers in the field of disability policy and research. The Institute will also shape public policy on issues related to autism and other disabilities as these issues affect children, the aging population, special education, health care, and transitions across the life span for persons with disabilities and their family care givers. Through this grant, the Foundation has provided an endowment to create the Lurie Chair in Disability Policy and operating funds for the first ten years of the work of the Lurie Institute.

The Heller School for Social Policy and Management

 Boston University Medical School , Boston , MA
2007-2010

Principal Investigator: Gene J. Blatt, Ph.D.

Neuropathological and Neurochemical Analysis of Key Speech and Language Areas in Autism

Autism is characterized by children and adults with a variety of speech and language impairments. Brain imaging studies have found that there is a different pattern of activation of speech and language regions in the brains of those with autism compared to normal controls in a variety of tasks. Despite an abundance of structural and functional MRI findings, there is a lack of information regarding the neurobiological basis of these changes, i.e., characterizing the specific cellular and neurochemical changes that may contribute to alterations in cortical activation of speech and language areas in autism. The investigator has therefore designed a novel study investigating critical speech and language areas in autistic brains, Broca's area and Wernicke's area in the frontal and temporal lobes respectively compared to adult age-matched controls. This investigation is designed to detect specific alterations in the density and distribution of key neuronal and glial types and in the neurotransmitter receptor subtypes within the layered cortical areas. In this way, the investigator can identify some of the core neurobiological substrates that may in part underlie the changes in language and social communication in autism. This work may guide geneticists toward finding autism genes and may guide the development of novel drug treatments. The investigator will also determine via detection of activated glia cells whether autism is a static process or a dynamic process in the brain. This part of the study may lead the investigator to identify the most vulnerable regions within selected brain areas and may lead to a greater understanding of ongoing cellular changes and their etiology.

Blatt Laboratory for Autism Research

The Children's Hospital of Philadelphia, Philadelphia, PA

2007-2010

Principal Investigator: Timothy P.L. Roberts, Ph.D.

MEG of Language Impairment in Autism (Co-funded with the Jeffrey Lurie Family Foundation)

Children's Hospital of Philadelphia

Cold Spring Harbor Laboratory, Cold Spring Harbor , NY
2007-2011

Support of Postgraduate Courses at Cold Spring Harbor Laboratory related to Autism Spectrum Disorders as part of the CSHL Brain Health Initiative: Focus on Autism and Related Developmental Disorders

The NLM Family Foundation, in partnership with other autism-focused organizations, supports educational programs at Cold Spring Harbor Laboratory (CSHL) related to autism spectrum disorders. As part of the Brain Health Initiative being developed at CSHL, CSHL is now working on new postgraduate courses designed to promote greater understanding of the neurobiological and genetic mechanisms affecting brain health. To enhance and extend research efforts on autism and related developmental disorders, the Initiative's Focus on Autism and Related Developmental Disorders has developed two new postgraduate lecture courses led by a distinguished faculty of top researchers from around the world. One course, Workshop on Autism Spectrum Disorders , takes an integrative approach to present the clinical, genetic, neurobiological and cognitive elements of autism spectrum disorders to senior postdoctoral fellows, assistant professors and neuroscience faculty interested in initiating research in these topics. The second course, Biology of Social Cognition , addresses how cognitive processes involving social behavior are developed and how they are altered or dysregulated in autism spectrum disorders and other developmental disorders.


Cold Spring Harbor Laboratory

Karolinska Institute, Stockholm , Sweden
2007-2009

Principal Investigator: Uno Lindberg, Ph.D.

Redox, profiling, and tropomyosins in the control of the MF System

Behaviour and differentiation of cells are steered by cell:cell communication, and by the interactions cells have with soluble or insoluble components in their surroundings. Transmembrane proteins, growth factor receptors, adhesion proteins, and ion channels, play a central role in this communication. Their signals to the interior of the cell activate the motile machinery of the cell and increase the rate of proliferation. Motile activity is generated by a highly dynamic, and well organized, weave of actin microfilaments (MF) connected to the inside of the cell membrane. Although there has been great progress in our understanding of the physiological importance of the MF-system, many aspects are still unclear. It has been reported that generation of reactive oxygen species (ROS; H2O2) in cells might control the MF-system, and the roles of ROS in disease, including autism and cancer, is emerging fields of research. An understanding of the role of hydrogen peroxide (H2O2) in the regulation of proteins of the MF-system (actin, profilin, and tropomyosin) is urgently needed.             

Dendritic spines at postsynaptic contacts of excitatory neurons depend on polymerization of actin, and synaptic deficiencies and neuronal migration defects have been identified as causes of hippocampal and amygdalar dysfunctions linked to autism. Furthermore, tumorigenicity is highly correlated with changes in the organization and activity of the MF-system. H2O2 is essential to growth factor-induced signaling, since ROS quenching abolishes its effects, and PTEN, a tumor suppressor protein, linked to the MF-system is directly controlled by oxidation. Inactivation of PTEN results in uncontrolled motility. Lindberg's group has recently shown that actin, like profilin and tropomyosin, is sensitive to oxidation. With the present project they hope to contribute to the understanding of the function of the MF-system in normal and dysfunctional cells.


The Uno Lindberg Research Group, Karolinska Institute

Massachusetts Advocates for Children, Boston, MA
2007

Establishment and Support of the Autism Special Education Legal Support Center

The goal of this project is to provide training, technical assistance, and advocacy services necessary to ensure that children with autism receive equal educational opportunities. Goals include: Providing parents with information about state-of-the-art services and programs available to meet individual needs of students with disabilities; Insuring that children with autism receive special education services necessary to reach their potential in areas impacted by their disability; Increasing public awareness and understanding of the potential and competency of individuals with autism, targeting policy makers, media, educators, service providers, as well as the general public. The Autism Special Education Legal Support Center will accomplish these goals by: providing community-based workshops for parents, educators, and medical professionals regarding legal rights and range of service options available for children with autism; providing a hotline to give legal and technical assistance to families of children with autism; training attorneys to increase representation of low-income students with autism to ensure that children receive legally mandated special education services; and providing information to the media, the legislature, and other policy makers regarding changes necessary to ensure children with autism receive services that reflect their potential.

Massachusetts Advocates for Children

Massachusetts General Hospital , Boston , MA

2007-2010

Principal Investigator: Tal Kenet, Ph.D.

Sensory Perception Deficits and Cortical Coherence in Children with Autism: A Study of the 'Noisy Cortex' Hypothesis

Autism is a behaviorally diagnosed disorder with defining impairments in socialization, interests, and communication abilities. Autism is also characterized by deficits in processing of simple visual and auditory information such as loudness discrimination or perception of moving dots, as well as complex visual and auditory information such as faces and language. Additionally, there is evidence of abnormal tactile sensitivity in autism. These functional findings are complemented by anatomical ones, the most robust of which is that the brains are large. Other neuroanatomical findings include neuroinflammation, and disrupted inhibitory circuitry. To date, no robust models have been formulated for either the neurobiological origin of the observed abnormalities, or the relationship between the pervasive anatomic abnormalities and the neural systems dysfunctions which are characteristic of autism. Furthermore, while the observed anatomical pathologies are distributed rather than localized, the vast majority of functional studies focus on localized features. The main objective of this project is to test the model that the neural substrates underlying the functional deficits of autism at the cortical level stem from a noisy cortex which has a poor signal to noise ratio. To this end, Dr. Kenet will employ magnetoencephalograpy (MEG) to record functional activation in response to sensory stimuli in children with autism and age matched controls. The central hypotheses are: (1) that the cortex of individuals with autism is inherently and internally a "noisy" cortex, i.e. a cortex with a low signal to noise ratio; (2) that the "noisiness" of the cortex is widely distributed rather than localized, resulting in widespread functional abnormalities; and (3) that from this distributed "noisy" cortex emanates a network in which connectivity is disrupted, with ensuing functional abnormalities that include widespread perceptual deficits, and alterations in neural circuitry that may drive higher order cognitive and social impairments emanating at least in part from abnormal network properties.


Massachusetts General Hospital, Martinos Center for Biomedical Imaging

Massachusetts Institute of Technology, Cambridge , MA
2007-2008

Principal Investigator: Damon Page, Ph.D.

Toward an Understanding of the Developmental Basis of Brain Dysfunction in Autism: Molecular and Cellular Mechanisms of Cortical Region and Network Formation

The cerebral cortex is made up of anatomically and functionally distinct regions and past evidence has suggested that abnormal formation and activity of certain areas may be involved in autism. This research will investigate morphological and functional regionalization of the mammalian cerebral cortex in normally developing mouse models to understand how the development of the cerebral cortex may be disrupted in autism. The use of diverse tools available in mice will enable us to understand how genes cooperate with one another and with extrinsic signals to build regions and functional circuitry in the cerebral cortex. This research will provide a basis for understanding how processes may be disrupted in individuals with autism, and should contribute to better diagnosis and treatment of this condition.

Laboratory of Mriganka Sur

National Press Foundation

Press Seminar on Autism Spectrum Disorders

Boston, MA
2007  

The NLM Family Foundation is sponsoring a one-day journalist training program on autism spectrum disorders scheduled to be held on October 15, 2007 in Boston . Organized by the National Press Foundation and offered at no cost to selected journalists, the program will enable working journalists to keep pace with the complex topics they cover and develop new skills, sources, and story angles. The objective of the program is to help to increase public knowledge about a range of issues relevant to autism spectrum disorders by educating journalists whose work reaches millions of readers, listeners, and viewers. Topics of discussion may include Introduction to Autism Spectrum Disorders, Diagnosis and Early Detection, Biomedical Research, Treatment, Autistic Children and the Educational System, and the Needs of Adolescents and Adults with Autism.

National Press Foundation

State of the Art, Inc., Washington, DC

2007-2008

Television Documentary Project: "The Science of Autism"

The Foundation provided a challenge grant to State of the Art, Inc. to underwrite the production of a television documentary on the science of autism. The film will provide an overview on the most current autism research in the areas of genetics, immunology, epidemiology and brain physiology. The documentary will be approximately one hour in length and will be a co-production of State of the Art, Inc and KCET, Los Angeles . It will be broadcast on KCET and public television stations throughout the United States. In the first broadcast release, KCET estimates audience reach will be 6 million households and 8 million individuals.

State of the Art, Inc.

Syracuse University, Facilitated Communication Institute, Syracuse , NY
2007-2008

Principal Investigator: Douglas Biklen, Ph.D.

The NLM Family Foundation has supported the Facilitated Communication Institute for several years.  Through the Core Funding Grant, the Strategic Planning Grant and the Lurie Scholarship Fund, the NLM Family Foundation supports the FC Institute's activities in facilitated communication training, documentation and demonstration, and reinitiates a strategic planning process to better focus the Institute for the next 5-10 years of work in the field of autism and inclusion.

Doug Biklen

Vanderbilt University, Nashville, TN

2007-2008

Principal Investigator: Pat Levitt, Ph.D.

MET Receptor Tyrosine Kinase and Autism Spectrum Disorders (Co-funded with the Simons Foundation)

MET is a protein that mediates cell functions involved in building brain architecture, and in gastrointestinal repair and immune responses. Based on their discovery of a variant of the MET gene that is associated with autism spectrum disorder (ASD), Dr. Levitt and colleagues hypothesize that alterations in MET function contribute to the brain-based and medical conditions that characterize individuals with ASD. They also hypothesize that environmental factors compound genetic risk by disrupting MET expression. The functional MET variant, which decreases expression of the gene approximately 2-fold, more than doubles the risk of ASD. The investigators will determine whether the variant defines individuals with specific medical and behavioral co-occurring conditions. Subjects with ASD and co-occurring medical conditions, such as GI or immune disorders will be studied through ASD medical clinics at Vanderbilt and Massachusetts General Hospital . The investigators will determine which individuals carry the ASD-associated MET variant, and correlate expression of the MET protein in blood immune cells and when available, in gut biopsies. These subjects and those from the AGRE and Simons collections will be subdivided using available behavioral and social scales to determine if the MET variant is found more prevalently with certain traits. Finally, the investigators will examine how the MET variant in cells responds following exposure to common environmental toxins, such as dioxin and fertilizers that interfere with gene expression. This research program will lead to better means for diagnosing and treating subgroups of ASD patients, and determine how gene-environment may play a role in increasing ASD risk.

Vanderbilt Kennedy Center for Research on Human Development

Yale University , Child Study Center , New Haven , CT

2007-2009

Principal Investigator: Fred Volkmar, MD

Undergraduate Education in Autism

Since 1984, the Child Study Center has conducted a Yale College seminar course on autism and related conditions. This grant supports the expansion of that course, which over 800 students have participated in over the years. As part of this course Yale College students attend a weekly 90-minute seminar on autism led by Dr. Fred Volkmar and Dr. Ami Klin. Students also spend three to four hours per week in a field placement at the Benhaven School working with significantly behaviorally and developmentally challenged students. The seminar portion of the course is designed to cover topics in diagnosis, treatment, genetics, and research with each meeting led by a different Yale faculty member under the supervision of Drs. Volkmar and Klin. Students are typically drawn from diverse backgrounds but usually include one or two siblings of a child with autism, pre-med and pre-law as well as psychology students.

Child Study Center, Yale University