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Beth Israel Deaconess Medical Center, Boston, MA

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

Genetic Mouse Models of Autism

Recent studies of autism patients’ DNA revealed decreases or increases in the number of copies of specific genes. Two of these genes are unique in that they do not encode proteins, but instead only make strings of ribonucleic acid (non-coding RNA). The function of these recently discovered non-coding RNA molecules are completely unknown. Interestingly, protein coding sequences are highly homologous (80-90%) between mouse and man and most genes are shared between these two mammalian species. However, these two non-coding RNA genes cannot be found anywhere within the complete DNA sequence of the mouse genome. They are only found in humans and other primates, suggesting they might have a unique role in the primate brain. Dr. Anderson will explore the function of these two novel genes in human neuronal cells and will also introduce them into the mouse brain to assess their impact on autism-related behaviors and neuronal circuit function. These studies will discover the function of these two novel genes. The studies will also determine whether these genes can alter the behavior and neuronal circuit function to help establish an etiologic role in human autism.

Massachusetts Eye and Ear Infirmary

Principal Investigator: Marylou Jackson, MD

Vision Rehabilitation Collaborative Outcome Study

The most common goal for patients with vision loss who present for vision rehabilitation is to be able to read, and the video camera magnifier (a device which combines a video camera and a screen to view the print being magnified) is the device which most often allows individuals to read successfully for extended periods of time. Previous studies of outcomes of vision rehabilitation have not identified which components of the rehabilitation intervention are effective. The hypothesis of this project is that providing a video camera magnifier, with basic training in operating the device, will allow patients to enhance both objective reading ability and subjective report of reading competence.

Massachusetts Advocates for Children, Boston, MA

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.

Click here to read the NLMFF Interview with Massachusetts Advocates for Children

Massachusetts Advocates for Children

Massachusetts General Hospital , Boston , MA

Principal Investigator: Martha R. Herbert, M.D., Ph.D.

NIRS Imaging and its Utility and Importance in Infants

The investigators are engaged in a DoD-funded comprehensive multisystem study of development beginning in early infancy to allow them to understand the mechanisms by which autism's brain-behavior-body relationships emerge. They propose that Near-Infrared Spectroscopy (NIRS) can make a unique contribution to studying autism's emergence by providing an infant- and toddler-friendly technology for examining the metabolic and vascular underpinnings of brain changes in early autism. They propose that NIRS measures of cerebral perfusion and of the redox state of the mitochondrial marker cytochrome c oxidase may provide objective early indicators of risk for autism. Reduced cerebral perfusion has been abundantly documented in autism, and mitochondrial abnormalities are of emerging interest as well. The investigators hypothesize that these cerebral and metabolic changes may temporally precede behavioral abnormalities. They propose that their detection may eventually allow the early institution of medical measures that could improve perfusion and mitochondrial function and that this could prevent autism or reduce its severity. They also propose that the investigation of neurovascular coupling, which can be done by simultaneous NIRS-EEG, may illuminate changes which may arguably be at ground zero of autism. If abnormalities in cerebral perfusion and metabolism develop dynamically in infancy in at least some cases, they may be central to mechanisms of autistic regression. Early detection of these abnormalities could lead to avenues of early medical intervention or even prevention of autism.  The purpose of this equipment grant will be to purchase an OxiplexTS FD-NIRS system ISS Inc. device which would allow the investigators to perform the above measures. They will initially study those at-risk infants in the DoD funded study, "A Multisystem Evaluation of Infants At Risk for Autism" whose parents would consent to this additional evaluation, and will also seek funding for a larger cohort and for studying older children and adults.

Martha Herbert

Massachusetts Institute of Technology, Cambridge, MA

Principal Investigator: Matthew Goodwin, Ph.D.

Career Development Award

Matthew Goodwin’s research plan to be covered by this Career Development Award includes:

(1) Developing, supervising, conducting, evaluating, and disseminating autism technology and related research;
(2) Building infrastructure and a coordinated program of research and educational activities under the auspices of MIT’s Autism and Communication Technology Initiative;
(3) Engaging in advanced psychophysiological and statistical training opportunities; and
(4) Developing a competitive academic portfolio to obtain an eventual tenure-track faculty or equivalent research scientist position.

Syracuse University, Institute on Communication and Inclusion, Syracuse, NY

Principal Investigator: Douglas Biklen, Ph.D.

Core Funding for the Institute on Communication and Inclusion

This grant to the Institute on Communication and Inclusion (formerly the Facilitated Communication Institute) provides core funding for research, demonstration/training, and dissemination of public information about Facilitated Communication (FC), augmentative and alternative communication (AAC) and inclusion strategies. The core activities for 2010-2011 include: organizing an international symposium of research on literacy and AAC, including FC; updating web content on research, policy, and model practices; enhancing the visibility of FC and of individuals who can type without physical support or who can speak before and as they type; organizing the fifth annual Summer Institute on FC, AAC and inclusion strategies; providing model approaches for supporting adults to communicate, including support for FC users in higher education; providing support to professionals who are introducing content on FC into mainstream policy, literature, literacy, school reform, and related fields; creating an adult support group for individuals who use FC as their primary means of expression; increasing training for young students; providing on-site consultation and training support to local FC users; continuing to expand the participation of FC users in training activities; and engaging master trainers in providing training opportunities. This grant will provide support for an Assistant Professor, one doctoral student to intern at the Institute, training consultants for national workshops, a FC trainer on staff at the Institute, and provide funding for basic operational activities.

Click here to read the NLMFF Interview with Dr. Biklen


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