Meckel-Gruber Syndrome

Dr. Harris' Polycystic Kidney Disease Lab is pursuing genetic and cellular studies of Meckel-Gruber syndrome after identification of the MKS3 gene. Meckel-Gruber syndrome, also called Meckel syndrome, causes numerous and often fatal abnormalities, including fluid-filled cysts in the kidneys.

The lab's research work on Meckel-Gruber syndrome includes:

  • Screening for mutations in the MKS1 and MKS3 genes, plus other recently identified MKS genes, and correlating the genetic data with phenotypic data
  • Analyzing the consequences of the MKS3 mutation at the cellular and organ level by analyzing an animal model
  • Analyzing the cellular location and function of the MKS1 and MKS3 proteins