Overview

The Genetics, Epigenetics and Biomarker Core within the Mayo Clinic Robert M. and Billie Kelley Pirnie Translational Polycystic Kidney Disease Center provides specialized genetics, epigenetics and biomarker services in support of research and clinical trials related to autosomal dominant polycystic kidney disease (ADPKD) and other forms of polycystic kidney disease (PKD).

Core services

Services of the Genetics, Epigenetics and Biomarker Core are available to PKD researchers worldwide and include:

  • Mayo PKD Clinical Database. The database facilitates discovery of factors influencing the presentation and progression of PKD. Learn more.
  • Mutation screening of cystic disease genes. Screening services are offered for four different PKD population types. Learn more.
  • Cystic kidney and liver disease biobank. The biobank collects tissue and cyst fluid samples from patients and provides valuable reagents. Learn more.
  • Epigenetic analysis of human cystic disease. The core facilitates discovery of epigenetic factors influencing the presentation and progression of cystic diseases. Learn more.
  • Urine and serum collection and fractionation. The core facilitates sample collection, fractionation and storage for future biomarker analysis. Learn more.
  • Distribution of full-length, tagged clones of PKD genes. The core provides constructs and other reagents to facilitate PKD research. Learn more.
  • DNA submission criteria. The core accepts DNA samples using proper DNA extraction, DNA concentration and shipping. Learn more.

Core director

The director of the Genetics, Epigenetics and Biomarker Core is Peter C. Harris, Ph.D. Dr. Harris is a professor of medicine and of biochemistry and molecular biology at Mayo Clinic College of Medicine and Science in Rochester, Minnesota. Dr. Harris is also principal investigator of the Polycystic Kidney Disease Genetics Laboratory. He researches molecular events associated with tubule formation, with a focus on polycystic kidney disease and related conditions.

The associate director of the core is Xiaogang Li, Ph.D. Dr. Li is a professor of medicine and of biochemistry and molecular biology at Mayo Clinic College of Medicine and Science in Rochester. Dr. Li is also principal investigator of the Polycystic Kidney Disease Epigenetics Laboratory. His research focuses on understanding the importance of epigenetics in PKD.