The must-have review of neurobiological research that increases understanding of and ability to treat ASDs
Section 1: Autism Spectrum Disorders1.1 Epidemiology of autism
spectrum disorders; 1.2 The behavioral manifestations of autism
spectrum disorders; 1.3 Early manifestations of autism spectrum
disorders; 1.4 Asperger Syndrome and Its Relationship to Autism
Spectrum Disorders; 1.5 Behavioral and Psychosocial Interventions
for Individuals with ASD; 1.6 Current Trends in the Pharmacological
Treatment of Autism Spectrum Disorders; 1.7 Novel therapeutics in
autism spectrum disorders
Section 2: Etiology of Autism Spectrum Disorders2.1 Medical
genetics and autism spectrum disorders; 2.2 Copy Number Variation
in Autism Spectrum Disorders; 2.3 Common genetic variants in autism
spectrum disorders; 2.4 Next-Generation Sequencing for Gene and
Pathway Discovery and Analysis in Autism Spectrum Disorders; 2.5
Mitochondria and Autism Spectrum Disorders; 2.6 Parental and
perinatal risk factors in ASDs; 2.7 The Environment in autism
spectrum disorders; 2.8 Hormonal influences in typical development:
Implications for autism; 2.9 Immune abnormalities and autism
spectrum disorders
Section 3: Brain Imaging and Neuropatholgy of Autism Spectrum
Disorders3.1 Structural and functional MRI studies of autism
spectrum disorders; 3.2 DTI and tractography in the autistic brain;
3.3 Attentional network deficits in autism spectrum disorders; 3.4
The cerebellum in autism spectrum disorders; 3.5 The amygdala in
autism spectrum disorders; 3.6 Discrete cortical neuropathology in
autism spectrum disorders; 3.7 The minicolumnopathy of autism
spectrum disorders; 3.8 Inhibitory and excitatory systems in autism
spectrum disorders; 3.9 Clinicopathological Stratification of
Idiopathic Autism and Autism Associated with 15q11.2-q13
Duplications
Section 4: Model Systems and Pathways in Autism Spectrum
Disorders4.1 Mouse behavioral models for autism spectrum disorders;
4.2 Nonhuman primate models for autism spectrum disorders; 4.3
Inducible pluripotent stem cells in ASDs; 4.4 A 15q11-q13
duplication mouse model for autism spectrum disorders; 4.5 Fragile
X syndrome and autism spectrum disorders; 4.6 MECP2 and autism
spectrum disorders; 4.7 SHANK2 and SHANK3 Mutations Implicate
Glutamate Signaling Abnormalities in Autism Spectrum Disorders; 4.8
PI3K signaling and miRNA regulation in autism spectrum disorders;
4.9 Getting from 1000 genes to a triad of symptoms: The emerging
role of systems biology in autism spectrum disorders
Dr. Joseph Buxbaum is a world-renowned molecular geneticist who has
been intimately affiliated with the Seaver Autism Center since
joining the faculty at Mount Sinai in 1997. Dr. Buxbaum was
recruited in part to establish a molecular genetics program in
autism spectrum conditions within Mount Sinai. As such, he was the
Director of Molecular Genetics in the Seaver Autism Center for
seven years and took over Directorship of the Seaver Autism Center
itself in 2008. Dr. Buxbaum has focused on understanding the
molecular and genetic basis of autism spectrum conditions, which
will allow for a better understanding of what causes them, leading
to the development of novel therapeutics for the negative aspects
of these disorders.
Additionally, Dr. Buxbaum heads the Laboratory of Molecular
Neuropsychiatry, which has taken the findings of the causes of
autism and translated them into animal models where therapeutic
approaches can be evaluated. In this context, Dr. Buxbaum has
established the Autism Model Systems Initiative, which makes use of
multiple experimental systems to develop and evaluate novel
therapeutics in autism spectrum conditions.
Dr. Buxbaum has taken the lead in collaborations with multiple
independent sites to ensure that the best science in the service of
the families is carried out. Dr. Buxbaum is a lead investigator in
the Autism Genetics Consortium, the Autism Genome Project, and the
Autism Case Control Cohort, and is a part of the Psychiatric
Genetics Consortium. These large Consortia have the benefit of
advancing the best science at the fastest pace.
As the founder and co-leader of the Autism Sequencing Consortium,
Dr. Buxbaum is part of an international group of scientists who
share autism samples, data, and ideas in order to accelerate our
understanding of the causes and treatments of autism.
Dr. Buxbaum, the G. Harold and Leila Y. Mathers Professor, has
received numerous awards for his research. He has received
recognition from the American College of Neuropsychopharmacology
(ACNP) in the form of the Daniel H. Efron award for "excellence in
research in neuropsychophamacology" (2005), as well as from the
Eden Institute Foundation for his "commitment and dedication to
improving the quality of life in individuals with autism" (2008).
In 2010, Dr. Buxbaum received the Richard D. Todd Memorial Award
from the International Society of Psychiatric Genetics, the Joel
Elkes Research Award from ACNP, and the Evans Research Award from
the Marine Biological Laboratory. He also received the 2011 Dean’s
Award for Excellence in Translational Science. Dr. Buxbaum has
published over 150 publications in esteemed journals and his work
on autism and related conditions has been published in major
journals including Nature, Nature Genetics, Proceedings of the
National Academy of Sciences, Molecular Psychiatry, and Biological
Psychiatry. He is the co-Editor-in-chief of Molecular Autism, a
journal that publishes cutting-edge research in autism
genetics.
To read Dr. Buxbaum's blog, visit
http://scitechconnect.elsevier.com/category/neuroscience/
Dr. Hof is the Irving and Dorothy Regenstreif Research Professor of
Neuroscience and the Vice-Chair of the Department of Neuroscience
at the Icahn School of Medicine at Mount Sinai in New York. He also
leads the Center of Excellence on Brain Aging of the Friedman Brain
Institute. His laboratory has extensive expertise in the pathology
of neuropsychiatric disorders and has established an international
reputation in quantitative approaches to neuroanatomy and studies
of brain evolution.
Dr. Hof earned his MD from the University of Geneva, School of
Medicine in Switzerland. He came to the USA as a postgraduate
fellow at the Research Institute of Scripps Clinic, La Jolla, CA.
In 1989 he came to Mount Sinai School of Medicine as a Senior
Research Associate and joined the Faculty there in 1990. He is also
a Professor of Geriatrics and Ophthalmology at Mount Sinai.
Dr. Hof's research is directed towards the study of selective
neuronal vulnerability in dementing illnesses and aging using
classical neuropathologic as well as modern quantitative
morphologic methods to determine the cellular features that render
the human brain uniquely vulnerable to degenerative disorders. Dr.
Hof also conducts analyses of the distribution and connectivity
patterns of pyramidal neuron subpopulations in the macaque monkey
cerebral cortex in young and very old animals to study possible
age-related changes in the neurochemical characteristics of the
neurons of origin of corticocortical projections. He develops
stereologic, high-resolution morphometric, and imaging tools for
the quantitative study of neuroanatomical specimens and brain atlas
development. Among his major contributions, Dr. Hof demonstrated
that specific neurons are selectively vulnerable in dementing
disorders such as Alzheimer’s disease. He has made contributions to
quantifying the differences between normal aging brains and
Alzheimer’s disease, as well as other mental illnesses such as
schizophrenia and autism. Dr. Hof is also the curator of a
mammalian brain collection that includes a large series of great
ape specimens, as well as an extensive sample of marine mammals. He
has contributed considerably to our understanding of the structure
of the cetacean brain and has identified, in select mammalian
brains, specific neuronal types in parts of the cerebral cortex
known to be involved in social awareness, judgment, and attention,
that can be considered as markers of adaptive mechanisms and
functions in response to particular ecological pressures.
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