Fadi G. Akar, PhD, associate professor of medicine and Biomedical Engineering, and colleague, Stuart Campbell, PhD, associate professor of Biomedical Engineering and Cellular and Molecular Physiology are the recipients of a four-year $2.7M National Institutes of Health award for the project titled, “Desmoplakinopathies: Integrated Pathophysiology and Therapeutics.”

Arrhythmogenic Cardiomyopathy (ACM) is an inherited disease that is characterized by early-onset ventricular arrhythmias arising in the absence of overt cardiac remodeling, with subsequent development and progression of heart failure. Mutations in intercalated disc proteins, including Desmoplakin, give rise to ACM, a disease that promotes sudden cardiac death often in young otherwise healthy athletes.

Akar and Campbell join forces to uncover critical interactions between external factors imposed by exercise and genetic factors caused by mutations in Desmoplakin. The two principal investigators direct their complementary and synergistic areas of expertise in tissue engineering, gene and cell therapies, intracellular calcium handling, ion channel physiology, electrophysiology, and arrhythmias, towards developing novel gene and small molecule-based approaches for this devastating disease.

Akar is the principal investigator of the Akar Electro-Biology and Arrhythmia Therapeutics Laboratory at the Yale School of Medicine. Recent discoveries in the laboratory about the underlying causes of arrhythmias, a leading cause of sudden cardiac death. Akar completed his doctoral degree in Biomedical Engineering from Case Western Reserve University and his post-doctoral training in molecular cardiology at Johns Hopkins University.

The grant discussed in this article was awarded by the National Institutes of Health under Award Number 1R01HL163092-01A1.