Tuberous Sclerosis: Shedding light on the neural circuitry of autism

  • Autism Research
Speaker Mustafa Sahin, M.D., Ph.D.
Boston Children's Hospital
Date & Time


Gerald D. Fischbach Auditorium
160 5th Avenue
New York, NY 10010 United States

Autism Research

Autism Research lectures bring together scientists and scholars to discuss diverse and important topics related to autism. The lectures are open to the public and are held at the Gerald D. Fischbach Auditorium at the Simons Foundation headquarters in New York City. Tea is served prior to each lecture.

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On 5 October 2016, Mustafa Sahin presented an update on translational research in Tuberous Sclerosis Complex.

His talk was part of the Simons Foundation Autism Research lecture series.

About the Lecture

In this lecture, Mustafa Sahin presented the rationale for investigating Tuberous Sclerosis Complex (TSC) as a way to understand the cellular and circuitry alterations underlying autism spectrum disorder. Using a combination of cell culture, mouse behavior and human electroencephalography (EEG) and magnetic resonance imaging (MRI) experiments, Sahin and colleagues have demonstrated abnormalities in neuronal connectivity and neuron-glia interactions in TSC. Inhibitors of mammalian target of rapamycin (mTOR) proteins are effective in mouse models of TSC and are being tested in clinical trials now. A better understanding of TSC can also provide insights for related neurodevelopmental disorders in which similar cellular and circuit abnormalities can be detected.

About the Speaker

Mustafa Sahin is a developmental neurobiologist and a pediatric neurologist. He received his B.S. degree from Brown University, his M.D. and Ph.D. from Yale School of Medicine. He completed a pediatrics residency at Children’s Hospital of Philadelphia and a child neurology residency at Boston Children’s Hospital. He is currently the director of the Translational Neuroscience Center at Boston Children’s Hospital and a professor of neurology at Harvard Medical School. He directs two national consortia to study biomarkers and comparative pathobiology of TSC and related neurodevelopmental disorders.

Past Lectures

Altered somatosensory processing in autism spectrum disorders: Mechanisms and emerging therapeutic opportunities

David Ginty, Ph.D.Professor of Neurobiology, Harvard University

On April 24, 2019, David Ginty presented his work on the neurobiological basis of touch over-reactivity in mouse models of autism spectrum disorder (ASD). He also discussed new pharmacological approaches aimed at reducing sensory over-reactivity and potentially improving cognitive and behavioral abnormalities associated with ASD.

Mapping human cerebral cortex: Structure, function, connectivity, development and evolution

David Van Essen, Ph.D.Alumni Endowed Professor, Washington University in St. Louis

On April 3, 2019, David Van Essen provided an overview of basic principles of cortical organization and connectivity from studies of laboratory animals and analyses of individual variability in humans. He also highlighted a new map (‘parcellation’) of the human cerebral cortex based on data from the Human Connectome Project.

The genetic influences on autism spectrum disorder risk

Elise Robinson, Sc.D.Assistant Professor, Harvard T.H. Chan School of Public Health
Associate Member, Broad Institute

On January 30, 2019, Elise Robinson provided an overview of the role that genetic factors play in autism spectrum disorders and discussed the next steps to further understand autism genetics.

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