Northwestern Events Calendar


Genetics and Biology of the Human Circadian System - Louis Ptáček, MD

Louis Ptáček, MD

When: Thursday, September 26, 2019
2:00 PM - 3:00 PM  

Where: Robert H Lurie Medical Research Center, Baldwin Auditorium, 303 E. Superior, Chicago, IL 60611 map it

Audience: Faculty/Staff - Student - Public - Post Docs/Docs - Graduate Students

Contact: Michelle Mohney   312.503.5602

Group: Center for Autism and Neurodevelopment

Category: Lectures & Meetings


Join us remotely via BlueJeans

The Center for Autism and Neurodevelopment of Northwestern University Feinberg School of Medicine welcomes you to attend a lecture featuring:

Louis Ptáček, MD
John C. Coleman Distinguished Professor of Neurology
University of California, San Francisco

Sleep contributes to our physical and mental health, and sleep perturbation has been linked to many health conditions. However, understanding of the human circadian system was impossible until the recognition of extreme behavioral variants of the human circadian system. The Mendelian trait of familial advanced sleep phase (FASP) 20 years ago opened up the possibility of identifying human genes and mutations that regulate the human clock. We have been studying many FASP families to identify such genetic variant and to probe the in vitro and in vivo functional consequences of such variants. These studies have led to many novel insights into the human circadian clock. Our work over the last 20 years has now culminated with reported estimates of FASP prevalence that is much higher than anyone could have predicted before. The resource of human families is leading to identification of novel circadian genes.

Dr. Louis Ptáček has used the tools of human genetics in the study of 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. His earliest work focused a group of rare episodic muscle diseases he had proposed as models for more complex episodic/electrical disorders like cardiac arrhythmias and epilepsy. In an elegant set of papers, he systematically cloned and characterized all the genes causing a variety of familial periodic paralyses. All encode ion channels and work from his and other labs has shown that homologs of these are the cause of some forms of cardiac arrhythmias, epilepsy, and migraine headache. Subsequently, his group has done extensive work in characterizing the functional consequences of disease causing mutations.

To this point, Ptáček’s work had focused on human diseases. In another line of work motivated by a family with an interesting phenotype, he has now embarked into the challenging field of behavioral genetics. He and his colleague, Ying-Hui Fu, study the genetics of human sleep phenotypes. Familial advanced sleep phase (FASP), is manifest as a lifelong trait of extremely early sleep times and early morning awakening (1 am – 4 am). Ptáček and Fu have gone on to characterize mutations in a growing list of genes that underlie the phenotype in ~15% of FASP families. Furthermore, they’ve gone on to model human mutations in Drosophila and mice. In vitro and in vivo experiments focused on regions harboring the human mutations has led to novel insights in fine tuning of circadian period regulation by phosphorylation and other post translational modifications.

He serves on a number editorial boards including Neurogenetics, eLife, and the Journal of Clinical Investigation. 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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