A Study of Genes that Cause Cystic Kidney Disease

Mayo Clinic

Overview

The overall objective of this study is to define genes causing cystic kidney disease and to determine the degree to which variants at these cystic kidney disease genes underlie the clinical diversity of these disorders. This will provide an insight into the disease mechanisms, and explore novel mutation screening methods.  A combination of mutation screening in clinically characterized human cystic kidney disease populations, gene hunting and exploration of incompletely penetrant alleles in humans will provide a comprehensive picture of how mutations cause the resulting phenotype.

 

You may be eligible for this study if you:

  • Any adult of a family with renal cystic kidney disease (affected or unaffected)
  • Females and males of any race or ethnic group
  • Symptomatic children (0-17 years)
  • Children with a confirmed negative disease (0-17 years)

 

Locations

Minnesota