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| KIDNEY DISEASE | home > about hwi > what does hwi do? > drug discovery > kidney disease | |||||
Understanding
how mutations in a single large protein cause PKD
The disease is characterized by the accumulation of fluid-filled cysts in the kidney. The disease results in the loss of renal function leading ultimately to dialysis and transplantation. In addition, the frequency of this disease and the drastic treatment methods that are required place a significant financial burden on the nation’s healthcare infrastructure. Simply knowing the sequence of a protein does not provide the information needed to understand how mutations cause disease or to design therapies. The three-dimensional structures of the protein products of the genes are the key to understanding what is causing PKD. The Duax Lab is using pre-existing structural data
to create a 3D model of the PKD structure that can be used to locate
its most probable mutation sites and to understand why those mutations
are happening. Armed
with the knowledge of the molecular cause of PKD, we can begin to develop
more cost-effective and less invasive drug-based treatments. |
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Polycystic Kidney Disease (PKD) is one of the most common human genetic
diseases with an incidence rate of about 1:1000. The incidence
will continue to increase because, by the time patients are diagnosed,
they are beyond their child-bearing years and have already passed PKD
on to their children.