Dr. Ptáček focuses on study of families with genetic phenotypes aiming to map and clone genes and mutations. In some cases, his laboratory has identified and characterized novel human phenotypes. They’ve localized and cloned genes for many episodic phenotypes, neurodegenerative disorders, and human circadian variants. Assorted techniques are then applied to study the encoded proteins to examine functional consequences of mutations and to link these with understanding of disease pathogenesis. They also generate animal models of human mutations in mice and Drosophila. Such work translates from patients to biological understanding and ultimately, helps in diagnosis and treatment of human diseases.