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November 17,
2003

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Currents--University of Rochester newspaper

Med Center home to new NIH program

The Medical Center has been chosen as the site for one of seven national centers established by the National Institutes of Health (NIH) to investigate especially rare diseases. Funded with $6.25 million, part of $51 million put forth by NIH to establish the Rare Diseases Clinical Research Network, the Rochester center will focus on three uncommon neurological disorders and will be led by Robert Griggs, professor and chair of the Department of Neurology.

At the center, Griggs will focus on periodic paralysis, episodic ataxia, and nondystrophic myotonias, three channelopathies--a term coined by Griggs a decade ago to describe diseases caused by abnormal cell channels or gates that regulate the levels of crucial chemicals such as sodium, calcium, and potassium in cells. In all three disorders, symptoms are sporadic and triggered in unpredictable ways by factors such as sleep, rest, exercise, diet, being startled, or feeling warm or cold.

The three disorders are so rare, with perhaps a total of 10,000 patients in the United States, that many patients go from doctor to doctor for years before receiving a correct diagnosis. Along with colleague Rabi Tawil, associate professor of neurology, Griggs treats about 100 patients from around the world with these conditions, probably the biggest single pool of such patients anywhere.

The research should benefit more than patients with these three disorders, says Griggs, who notes that within neurology alone, more than 50 diseases are known to arise from problems with channels, including some forms of epilepsy and some migraines.

"This is a good place to start to cure some of these channelopathies," says Griggs. "We're not out just to find a cure for these rare diseases but to use the information we find to hopefully cure other neurological disorders as well."

With the new funding, Griggs and colleagues plan to conduct several studies to move forward effective treatments for these conditions.

"The whole point of the rare diseases program is to support the development of new treatments. These are all diseases where effective treatment is within reach. This program certainly should provide hope for patients," adds Griggs.



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