Category Archives: News

Research: “Genetic Animal Models for Autism Spectrum Disorder”

Recent advances in research indicate that the development of autism spectrum disorder (ASD) has a strong genetic component. Being able to identify the specific genetic makeup for ASD would allow for better understanding of the disorder and for the development … Continue reading

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Research: “Altered striatal synaptic function and abnormal behaviour in Shank3 Exon4-9 deletion mouse model of autism”

People with a mutated SHANK3 gene often present with delayed or impaired speech, as well as Obsessive Compulsive Disorder-like behaviors; additionally, the SHANK3 mutation is present in some cases of Autism Spectrum Disorder (ASD).The SHANK3 gene assists in neurotransmitter connection, … Continue reading

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Research: “Abnormal glutamate release in aged BTBR mouse model of autism”

It is currently unknown whether the neurobiological findings present in young adults with autism spectrum disorder (ASD) are also present in older adults. Autism spectrum disorder (ASD) is a neurodevelopmental disorder involving deficits in information processing. Inhibitory and excitatory synapses … Continue reading

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Research: “Cerebellar Associative Sensory Learning Defects in five Mouse Autism Models”

Atypical sensory development is found in both human patients and SHANK3 knockout mice. It is known that genes associated with ASD (in this case SHANK3) can shape and affect cerebellum circuit functions, and that changes in the cerebellum affect behavior … Continue reading

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Research: “Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission & Behavioral Deficits”

SHANK3 is a gene that assists neurotransmitter connection, synapse formation, and dendrite spine maturation. The autism-associated insertion mutation (InsG) of SHANK3 exon 21 was found in two brothers with clinically identical cases of autism spectrum disorder (ASD), but not in … Continue reading

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Seaver Center Research: “Ultrastructural Analyses in the Hippocampus CA1 Field in Shank3 Deficient Mice”

SHANK3 is a gene that assists neurotransmitter connection, synapse formation, and dendrite spine maturation, heavily concentrated in the hippocampus. The hippocampus is involved in long-term potentiation (LTP), a process known to be affected by autism spectrum disorder (ASD). After investigating … Continue reading

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Research: “Effects of trace metal profiles characteristic for autism on synapses in cultured neurons”

According to recent research from Ulm University (Germany), having the incorrect dosage of metal ions may disrupt neuron and cell development, specifically neuronal synapse formation. Additionally, reports have shown a strong association between autism spectrum disorder (ASD) and an imbalance in … Continue reading

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Mount Sinai a Lead Site in NIH-Funded Rare Diseases Consortium Studying Autism and Intellectual Disability

10-institution study seeks to pilot new treatment approaches NEW YORK, NY – October 15, 2014 /Press Release/  ––  Under a five-year, $6 million grant from the National Institutes of Health’s (NIH) Rare Disease Clinical Research Network, the Icahn School of Medicine at Mount … Continue reading

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New Shank3 Gene Research

Recently there has been an increase in the volume of research devoted to the SHANK3 gene mutation as a cause of autism spectrum disorders (ASD). Below we have compiled a selection of these recent studies. Shank mutant mice as an … Continue reading

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New Grant Award to Study Effects of Shank3 Deficiency

The Seaver Autism Center has recently received a grant award from the National Institute of Mental Health to study the effects of Shank3 deficiency. The project will be led by Dr. Joseph Buxbaum, Director of the Seaver Autism Center, and … Continue reading

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