The Molecular Genetics and Biomarker Core within the Mayo Clinic Robert M. and Billie Kelley Pirnie Translational Polycystic Kidney Disease Center provides specialized services in support of research and clinical trials related to autosomal dominant polycystic kidney disease (ADPKD) and other forms of polycystic kidney disease (PKD).
Services of the Molecular Genetics and Biomarker Core are available to researchers at Mayo Clinic and to investigators worldwide.
- Mutation screening of cell lines derived from ADPKD patients. The core offers mutation screening of the ADPKD genes and others to facilitate the use of PKD cells for research. Learn more about the core's ADPKD mutation screening services.
- Mutation screening of large, typical ADPKD populations. A major focus of the core is providing PKD1 and PKD2 mutation screening (research testing) by Sanger sequencing as a way to characterize large ADPKD populations, such as those involved in clinical trials. Learn more about the core's services for mutation screening of typical ADPKD populations.
- Genetic screening of atypical PKD families. To enable the identification of novel PKD genes and unique allelic combinations, the core facilitates sample collection, mutation screening (including genes other than PKD1 and PKD2), and targeted sequencing and whole-exome analysis for gene discovery for unusual cases of PKD. Learn more about the core's genetic screening services.
- Cystic Kidney and Liver Disease Biobank (CKLBB) from ADPKD patients. Tissue samples are collected from patients who have undergone nephrectomy and partial liver resection as valuable reagents for understanding PKD pathogenesis. Learn more about the core's biobank services.
- Urine collection and fractionation. The core facilitates the collection, fractionation and storage of urine samples from Mayo Clinic patients, especially those involved in clinical trials, for future biomarker analysis. Learn more about the core's urine services.
The director of the Molecular Genetics and Biomarker Core is Peter C. Harris, Ph.D. Dr. Harris is a professor of medicine and of biochemistry and molecular biology at the Mayo Clinic College of Medicine and Science in Rochester, Minnesota. Dr. Harris is also principal investigator of the Polycystic Kidney Disease Laboratory. His research focuses on investigating molecular events associated with tubule formation, with a focus on polycystic kidney disease and related conditions.