Photograph of a person with safety glasses working in a PKD research lab at Mayo Clinic Specialized services

Our core offers services to support research and clinical trials, including next-generation sequencing, gene mutation analysis and sample biobanking.

Overview

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

Core services

Services of the Genetics, Epigenetics and Metabolomics 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 PKD populations. 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.
  • Microvascular, metabolic and mitochondrial analysis in PKD. 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 directors

The director of the Genetics, Epigenetics and Metabolomics 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 Discovery Laboratory. He researches molecular events associated with tubule formation, with a focus on polycystic kidney disease and related conditions.

Xiaogang Li, Ph.D., is an associate director of the core. 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's research focuses on understanding the importance of epigenetics in PKD.

Maria V. Irazabal Mira, M.D., Ph.D., also is an associate director of the core. Dr. Irazabal is an associate professor of medicine at Mayo Clinic College of Medicine and Science in Rochester. Dr. Irazabal's research focuses on metabolic, mitochondrial and endothelial cell changes associated with PKD.