SUMMARY
Caroline (Carli) R. Sussman, Ph.D., studies factors regulating kidney development and maintenance, and their implications for treating renal disease, particularly polycystic kidney disease (PKD), a major cause of renal failure. Dr. Sussman primarily studies zebrafish, an animal model that shares 70 percent of genes with humans and 84 percent of human disease-causing genes. Among the shared genes are two genes responsible for most cases of PKD, which also cause kidney cysts in zebrafish when mutated.
A major focus is on the regulation of cyclic adenosine monophosphate (cAMP), a signaling molecule that is increased in polycystic kidney disease, and is the therapeutic target of the only internationally approved drug for polycystic kidney disease. Dr. Sussman is examining phosphodiesterases — proteins that break down cAMP — and their interacting proteins to explore their effects on kidney cyst formation and to better understand the cellular pathways that promote cyst formation.
Focus areas
- Discovery of which of the 22 phosphodiesterase genes affect kidney development and are relevant to PKD
- Discovery of proteins that interact with phosphodiesterases that are essential for normal kidney development and maintenance
- Discovery of which subcellular pools of cAMP signaling are altered within cells leading to kidney cysts
- Characterization of a novel zebrafish mutant with kidney cysts, including gene identification
Significance to patient care
Polycystic kidney disease is the fourth leading cause of renal failure in the United States and is responsible for 6 percent of all kidney transplants or dialysis. Dr. Sussman's research will allow for a better understanding of kidney development and maintenance, and will contribute to the development of new therapeutics and prognostics for PKD.
Professional highlights
- Co-director, Model Systems Core, Mayo Translational PKD Center, 2015-present
- Recipient, Travel Award to the Jared J. Grantham Symposium, 2014
- Editorial board member, American Journal of Physiology — Renal, 2013-present
- Recipient, Travel Award to the PKD early program, American Society of Nephrology, 2013