A five-year, $5.6 million grant awarded by the National Institutes of Health has established Yale as one of four centers of excellence for the study of a kidney disorder that is the nation’s most common life-threatening genetic disease. The new center brings together investigators from several departments to focus on polycystic kidney disease (PKD). Plans also are in the works to add a clinical component to speed translation of research discoveries into treatment advances.

Although not all people with the disease are aware of the diagnosis, PKD is believed to affect some 600,000 Americans. The inherited disorder causes cysts to develop in the kidneys, interfering in their normal functioning and frequently resulting in the need for dialysis or transplantation. There is no treatment or cure for the disease, which results in about 1,000 deaths each year due to kidney failure. According to nephrologist Stefan Somlo, M.D., associate professor of medicine and genetics and head of the center, “We’re now able to bring in new investigators and new approaches to study a disease for which there are currently no specific treatments.” When it opens, the clinical center “will take advantage of the basic-science expertise here and make it more accessible for patients.”

Yale has long been active in PKD research. In 1996 Somlo and colleagues discovered PKD2, which is one of the two genes known to cause the disease. The other is PKD1. In January, Somlo and colleagues published findings in Nature Genetics about some of the previously unknown normal functions of PKD2. “We know that loss of function of either PKD1 or PKD2 causes the disease,” he said. “We don’t know what the genes’ normal functions are, but we’re getting much further along.” By understanding those functions, new avenues for treatment, prevention and, perhaps, a cure for PKD may emerge.