Our lab is pursuing genetic and cellular studies of various renal ciliopathies after the identification of genes for these diseases.
These syndromic diseases are characterized by renal abnormalities, such as cysts, but often also have central nervous system, eye, digit and liver phenotypes.
Our research on renal ciliopathies includes:
- Screening for mutations in a wide range of ciliopathies using the NGS gene panel.
- Analysis of renal ciliopathy animal models