Mutations & electrical disease: Insights from model studies

Electrically based syndromes like arrhythmia and epilepsy are integrative disorders that result in disruption of normal electrical behavior - Synchrony is abolished during arrhythmia, while epileptic seizures result from pathological synchronization in neuronal networks. However, understanding how these syndromes develop has been extremely difficult. Approaches to understand system level electrical disorders that focus on one specific part of the system fail to reveal the most valuable information how protein and cell anomalies affect complex interactions to disrupt the tissue and cause the disease state. To achieve an integrative understanding of such a complex system we are attempting to use mathematics and high performance computing to construct quantitative representations of the heart and hippocampus brain region. Such an approach will allow us to follow perturbations across multiple scales, from the modified proteins to altered cellular states to the propagation of the perturbation in cell networks. By helping us to predict the origin and pathway of pathological triggers, we may be able to improve diagnosis and treatment.

Colleen Clancy, PhD

Colleen E. Clancy (Assistant Professor of Computational Biomedicine in the departments of Physiology and Biophysics and Medicine at Weill Medical College of Cornell University) obtained her PhD at Case Western Reserve University in the Department of Physiology and Biophysics in 2001. She undertook her post-doctoral training at Columbia University in the Department of Pharmacology and then joined the faculty at Cornell in 2004. Dr. Clancy's background in mathematics and the biosciences formed the foundation for her current research interests of using theoretical models and simulation to investigate mechanisms of emergent electrical diseases including cardiac arrhythmia and epilepsy. Ongoing projects in Dr. Clancy_s lab focus on how genetic mutations, as examples of natural perturbations, disrupt protein, cell and tissue electrical activity to cause diseases like cardiac arrhythmia and epilepsy.