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Unique Huntington's study moves forward

al analyses. Participants are being evaluated once every nine months for anywhere from four to 10 years.

"The at-risk individuals who are participating in PHAROS do not know if they have inherited the gene responsible for Huntington's disease or if they will ever even develop this serious disease," said Shoulson, who chairs the Huntington Study Group. "The enthusiasm and commitment of these individuals to participate in this type of long-term research is gratifying. We expect that the knowledge from this observational study will be put to good use when we begin clinical trials to delay the onset of Huntington's disease."

Huntington's is an inherited disorder that affects about 30,000 people in North America; another 150,000 people or so may have the gene that causes the disease. The defective gene, a sort of genetic stutter, leads to the destruction of brain cells, causing involuntary movements, cognitive problems, and often psychological problems like depression and paranoia. The disease usually strikes in young- to mid-adulthood, in a patient's 30s or 40s.

The study is relevant for many physicians and patients who have increasing access to information about the specific genetic causes of many diseases, even for conditions like Huntington's for which there is no cure or approved treatment. The issues these patients face portend concerns that nearly everyone will confront eventually, as researchers ferret out the genes that predispose some people to heart trouble, high blood pressure, Alzheimer's and Parkinson's diseases, stroke, and other diseases. People at risk for Huntington's disease today present a unique opportunity for researchers to examine the psychosocial, ethical, and practical issues faced by people who have chosen not to know whether they will develop a serious disease or not.

"The experience from PHAROS also informs us how persons at high risk to develop a disabling genetic disease deal with lingering uncertaint
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Contact: Tom Rickey
tom_rickey@urmc.rochester.edu
585-275-7954
University of Rochester Medical Center
8-Aug-2006


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