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February 2009
Research on Renal Disease Progresses
In Dr. Darwin Bell's Laboratory of Renal Biology in the Darby Children's Research Institute, 12 researchers are intent on making sure kids like Ashley Jennings (see feature story, above) are spared the agony of polycystic kidney disease (PKD).
The lab, which focuses on PKD, has made significant progress in the last couple of years, expanding its ongoing research to develop and characterize mouse models with features that mirror almost exactly the human form of the disease, says Dr. Bell, who is director of renal research for the Division of Nephrology.
"That's allowed us to identify a combination of two cell membrane proteins which, when genetically modified, may play a central role in PKD," explains Dr. Bell. The research team is currently performing high throughput screening in an effort to discover pharmaceutical agents that block this protein complex. By blocking this complex, the hope is that it will ameliorate or slow the progression of cyst formation.
PKD is the most prevalent and life-threatening of genetic disorders, affecting more than 600,000 Americans. The disease has two forms - autosomal dominant PKD is the most common, affecting about one in 500 adults. Recessive PKD (which is what Jennings has) is less common, but affects newborns, infants and children, having a devastating effect on their kidneys and other organs.
The disorder causes multiple cysts in each kidney to grow and multiply over time, resulting in kidney enlargement. Ultimately the diseased kidney shuts down, making dialysis and transplantation the only forms of treatment.
Clinical trials are on the horizon, says Dr. Bell.
"The goal is to identify and design the therapeutic agents that will inhibit cyst formation in mouse models of PKD, and ultimately to extend this research into human clinical trails," says Dr. Bell.
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Inderjit Singh, PhD
Scientific Director
Darby Children's Research Inst. |
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Bernard L. Maria, MD, MBA
Executive Director
Darby Children's Research Inst. |
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