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


Location

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.

Video Thumbnail

By clicking to watch this video, you agree to our privacy policy.

 
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

How emotions shape our memories

Kelsey C. Martin, M.D., Ph.D.Executive Vice President, Autism and Neuroscience
Leonard Mlodinow, Ph.D.Physicist and Author

Have you ever contemplated the difference between a feeling, a thought and a memory? And how do all these things fit together in making us who we are?

Leonard Mlodinow is a theoretical physicist and best-selling author. In his latest book, “Emotional: How Feelings Shape Our Thinking,” he unpacks the role emotions play in our thinking and mental well-being.

Kelsey Martin, director of the Simons Foundation Autism Research Initiative (SFARI) and the foundation’s neuroscience collaborations, has spent much of her career as a neuroscientist seeking to understand better how experiences change brain connectivity to store long-term memories.

What do we mean by ‘autism risk genes’?

David Ledbetter, Ph.D.
Chief Clinical Officer, Dascena

Joseph Buxbaum, Ph.D.
Director, Seaver Autism Center
Professor, Psychiatry, Neuroscience, Genetics and Genomic Sciences
Vice Chair for Research and Vice Chair for Mentoring, Psychiatry, Icahn School of Medicine at Mount Sinai

Heather Mefford, M.D., Ph.D.
Full Member, St. Jude Children’s Research Hospital

David Ledbetter and Joseph Buxbaum discussed whether there are genes for which mutations confer risk specific to autism or whether these genes are really conferring general risk of disrupted brain development. The discussion was moderated by Heather Mefford.

Small molecules, genes and antisense oligonucleotides: Industry perspectives on treatment development for ASD

Federico Bolognani, M.D., Ph.D.
Vice President, Head of Clinical Science, Axial Therapeutics

Stuart Cobb, Ph.D.
Chief Scientific Officer, Neurogene; Research Fellow, University of Edinburgh

Yael Weiss, M.D., Ph.D.
Vice President, Business Development, Ultragenyx

Randy Carpenter, M.D.
Chief Medical Officer, Rett Syndrome Research Trust; Co-Founder, Allos Pharma

Federico Bolognani, Stuart Cobb, and Yael Weiss joined a panel to discuss new industry developments on the use of small molecules, gene therapy and antisense oligonucleotides as treatment approaches for autism spectrum disorders (ASD). The panel discussion was moderated by Randall Carpenter.

Subscribe to our newsletter and receive SFARI funding announcements and news