The Rochester center, which will focus on three uncommon neurological disorders, will be funded with $6.25 million, part of $51 million put forth by NIH to establish the Rare Diseases Clinical Research Network. The centers will focus on disorders that are often pushed aside in the fight for attention and dollars by more common diseases that affect millions of people, such as cancer, diabetes and heart disease.
The Rochester center will be led by Robert Griggs, M.D., professor and chair of the Department of Neurology. It was Griggs who, 10 years ago, coined the word "channelopathies" to describe diseases caused by abnormal cell channels or gates that regulate the levels of crucial chemicals such as sodium, calcium, and potassium in our cells.
Griggs' center will focus on three channelopathies: periodic paralysis, episodic ataxia, and nondystrophic myotonias. Patients affected by these disorders know all too well the dramatic consequences of the slightest shift in the level of a chemical like potassium in the muscles because of channel problems.
In all three disorders, symptoms are sporadic, triggered in unpredictable ways by factors such as sleep, rest, exercise, diet, being startled, or feeling warm or cold. A patient with periodic paralysis, for instance, might be absolutely fine for years, and then suddenly wake up unable to move a muscle for hours. Other patients might become paralyzed for a few minutes several times every day.
It's much the same with episodic ataxia, except instead of paralysis, patients lose their coordination suddenly and unexpectedly. A person with the cellular defect that causes episodic ataxia might become excited during a sporting event, for instance, and suddenly stagger about with little muscle control and sta
'"/>
Contact: Tom Rickey
trickey@admin.rochester.edu
585-275-7954
University of Rochester Medical Center
10-Nov-2003