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|KIDNEY DISEASE||> > > > kidney disease|
how mutations in a single large protein cause PKD
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.
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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