Phenotyping sleep

  • Autism Research
Speaker Emmanuel Mignot, M.D., Ph.D.
Stanford University
Date & Time



4:45 – 5:00pm EDT
Waiting room opens

5:00 – 6:15pm EDT
Talk + Q&A

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 September 16, 2020, Emmanuel Mignot discussed sleep biology as well as sleep disorders and their impact. He presented a link to what is known on the genetics of sleep and sleep disorders. He emphasized the need for large scale objective sleep recording studies with genomic and proteomic analysis to better understand the molecular pathways regulating sleep and circadian biology.

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

About the Lecture

Sleep as a phenotype has advantages as a research subject over other central nervous system behaviors. Sleep is objectively quantifiable in humans and animals. Sleep is clinically significant to many neuropsychiatric conditions (including autism) and general health issues, with causality starting to be evidenced by genetics. Additionally, sleep research and medicine are uniquely positioned to benefit from ongoing technological revolutions such as hardware miniaturization, large-scale genetic and proteomics, animal models, deep learning and other statistical interpretations.

In this lecture, Emmanuel Mignot first presented the basis of sleep biology as well as the most frequent sleep disorders and their impact. He explained how these disorders and sleep characteristics are currently monitored in sleep laboratories and how they are interpreted. He provided an example showing how supervised deep learning of electroencephalogram (EEG) signals can be used to imitate human scoring of sleep stages or events with more reliability and to discover new phenotypes and new applications.

From there, he presented a link to what is known on the genetics of sleep and sleep disorders, explaining the current gap — the fact current studies have only used subjective reports of sleep and sleep symptoms. The need for large scale objective sleep recording studies with genomic and proteomic analysis was emphasized. Such studies and analyses would allow for the understanding of molecular pathways regulating sleep and circadian biology. He pointed out that proteomics allows for the creation of multivariate models that can correlate with complex physiological phenomena such as organ function, aging, sleep debt or circadian phase. To ensure complete convergence of these technologies, a need exists for designing a complete, easy-to-wear, at-home sleep disorder hardware evaluation system. Such hardware is feasible and could happen soon with existing technology.

About the Speaker

Emmanuel Mignot is the Craig Reynolds Professor of Sleep Medicine at Stanford University. He discovered that human narcolepsy is caused by an autoimmune loss of approximately 20,000 hypothalamic neurons secreting the wake-promoting peptide hypocretin (also known as orexin). He also identified HLA-DQB1*06:02 and T-cell receptor genes as major susceptibility genes, which act together to promote a selective autoimmune process triggered by influenza A. Mignot has received numerous awards and is a member of the National Academy of Sciences and the National Academy of Medicine.


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