Word: hd
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...Though HD afflicts just 25,000 Americans, with 125,000 more at risk, it illustrates the growing urgency to develop sound genetic-testing practices. As medical researchers race toward completing a map of the human genome, with its estimated 50,000 to 100,000 genes, they are discovering new genes, their role in specific diseases, and new diagnostic tests--all at a breathtaking pace. Within 30 years, researchers expect to be able to produce a genetic "fingerprint" of an individual's potential future health that will enable doctors to wage pre-emptive battle. Already, testing before any symptoms appear makes...
...genetic counselors, most of them drawing on guidelines derived from Brandt's research, have been trained to help people assess such risks. "The protocol developed by Brandt is a paradigm for other late-onset, incurable diseases," says Nancy Wexler, president of the Hereditary Disease Foundation and a leading HD researcher. "It's very responsive to individual needs...
This summer a 44-year-old Baltimore native named Jack was waiting to have the first of at least three pre-test counseling sessions, spaced over a two-month period. Jack had already cleared the neurological exam that, if it had turned up HD symptoms, would have made testing redundant. Though Jack is healthy, he was well versed in the disease: his grandmother and mother died from it, and he knows there is a fifty-fifty chance that he has inherited the time-bomb gene. Two siblings have tested negative, two others positive. One sister is battling symptoms, including...
Enter Brandt, 43, intelligent but unintimidating. Long fascinated by the physiological aspects of memory disorder, Brandt started delving into amnesia, Alzheimer's and dementia while a graduate student at Boston University. Upon joining the Johns Hopkins faculty in 1981, he began focusing on HD, a disease that he says provides "an almost unique opportunity to study how a deterioration of systems in the brain could result in cognitive, emotional and movement problems...
...never went to sleep without her father taking her on a voyage of fantasy. Katie recites the stories as though she heard them last night. "Once there was a girl named Princess Leah, and her cousin Princess Katie came to a party she was having for her birthday. They hd just finished playing pin the tail on the shooting star when out of the sky came a space dragon, and it came down and took Princess Katie up with Princess Leah to the star castle, and they were captured...