Dr. Louis Ptáček uses the tools of human genetics in studying 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 another line of work motivated by a family with an interesting phenotype, he has now embarked into the challenging field of behavioral genetics. His group identified and characterized the first (only) Mendelian phenotype of the human circadian system. This autosomal dominant trait, familial advanced sleep phase (FASP), is manifest as a lifelong trait of extremely early sleep and early morning awakening (1–4 am). Ptáček and collaborator Ying-Hui Fu have gone on to characterize mutations in 5 genes that underlie the phenotype in ~10% of FASP families. Furthermore, they’ve gone on to model human FASP 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. He serves on a number editorial boards including Neurogenetics, eLife, and JCI. He is a member of the Institute of Medicine and the National Academy of Science.

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