Human Sleep Genetics

  • Speaker
  • Louis Ptáček, M.D.Professor, Neurology UCSF Weill Institute for Neurosciences, University of California, San Francisco
Date & Time

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Sleep is critical for health, and chronic sleep disruption increases the risk of virtually every disease. In 2012, modern human genetics was applied to understanding the genetics and biology of human sleep regulation for the first time. That year, Louis Ptáček, Ying-Hui Fu and their colleagues identified and characterized the first families with heritable normal circadian traits.

In this Presidential Lecture, Ptáček will discuss his research into the role of genetics in human sleep. He will discuss how he and Fu studied familial advanced sleep phase (FASP), a trait that manifests as a lifelong tendency to go to sleep and wake up unusually early (with wake-up times around 1–4 a.m.). Ptáček and Fu went on to characterize mutations in a growing list of genes that underlie the phenotype in around 15 percent of FASP families and to study them in vivo in mouse models. In vitro and in vivo experiments focused on regions harboring human mutations have led to novel insights in fine-tuning circadian period regulation by phosphorylation. More recently, with Fu’s identification of the first families with familial natural short sleep (FNSS), they’ve set out to identify a growing list of genes regulating sleep homeostasis and efficiency. As they begin to understand the biology underlying sleep, new opportunities are being presented to improve human health by targeting sleep quality as a target to reduce the risk of many diseases.

About the Speaker

Ptáček uses human genetics tools to study patients with an impressive range of human phenotypes. He pioneered the field of ‘channelopathies,’ which encompasses a large group of episodic/electrical disorders of muscle, heart and brain. More recently, he has entered the challenging field of behavioral genetics and established the field of human sleep genetics. He and his colleagues use genetics to help us understand what sleep is and why we need it. He is a member of the National Academy of Medicine, the American Association of Arts and Sciences and the National Academy of Science.

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