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Nature. 1999 Jan 28;397(6717):293-4. The odds of losing at genetic roulette. Crow JF. Comment on Nature. 1999 Jan 28;397(6717):344-7. PMID: 9950420 ...
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the odds of losing at genetic roulette An article last week on genetic diseases said that multiple sclerosis is a hereditary disorder.
While scientists believe there may be a genetic component that makes on susceptible to MS, other factors are thought to be necessary for the disease to occur.
By Len Cooper August 27, 1986 "Madame!
Aren't you ashamed of yourself for being drunk this early in the morning?
The officer's words frightened the 53-year-old retired high school biology teacher into panic.
She almost never touched alcohol, but she had recently noticed that her movements were becoming awkward.
She telephoned her husband, Learn more here Wexler, a psychoanalyst, who arranged for her to see a neurologist that afternoon.
Leonore Wexler's three brothers had died from Huntington's disease HDoften referred to as Huntington's chorea, a debilitating hereditary illness that causes its victims to gradually lose control of both voluntary and involuntary muscle movement.
The ailment eventually leaves its victims totally incapacitated, and death comes gradually within 10 to 20 years.
The neurologist confirmed Leonore Wexler's worst fears.
It was then that Nancy Wexler -- a doctoral student in psychology and the younger of Leonore Wexler's two daughters -- became obsessed with Huntington's disease.
Also at that time, she became president of the Hereditary Disease Foundation, which her father founded during his wife's bout with HD.
Milton Wexler launched the HD Foundation because, he said, "In the beginning I was deeply concerned about my children, and I thought that my wife would be saved if research advanced quickly enough.
So later it became a passion to solve, as I see it, one of the leading questions on the cutting edge of science and medicine today.
How do humans get steered into behaving a certain way through that marvelous method of DNA?
Every day, with the help of a seven-member staff located in Los Angeles, Wexler spends 12 to 16 hours poring over new studies and soliciting funds for research about Huntington's disease.
She travels to consult experts in genetic research and to buttonhole such celebrities as Blake Edwards and Carol Burnett for fundraising help.
Her quest has taken her as far as the shores of Lake Maracaibo in Venezuela, where a fishing village with a high incidence of Huntington's may offer the first significant breakthrough for controlling or curing the disorder.
Since becoming the head of the Hereditary Disease Foundation, Nancy Wexler has constructed HD family trees on computer print-out sheets that are taped up like wallpaper on her office walls and stretch for yards the odds of losing at genetic roulette the hall outside her quarters at the Columbia University Psychiatric Institute in New York.
Wexler still remembers the tragic day 18 years ago when her father summoned her and her sister home from graduate school to tell them of their mother's illness.
Leonore Wexler took the news as well as could be expected.
It was very difficult to communicate with her until she just stopped talking altogether.
Are such things meaningless or signs that she has the disease?
Like thousands of others at risk, Wexler won't know the answer until the symptoms become rudely obvious.
Some days I say to myself, 'Hey!
Is this what it's going to be like?
Among confirmed cases, as well as those at risk, the suicide rate is seven times the national average.
A breakthrough toward identifying those who will actually develop the disease occurred a little over two years ago.
Through the use of recombinant DNA technology, Harvard University's James Gusella, a molecular biologist, located a genetic marker for Huntington's, which indicates the presence of the defective gene.
The same procedure may enable reseachers to locate on the chromosome the presence of defective genes that cause other hereditary disorders, such as multiple sclerosis, Alzheimer's disease and Parkinson's disease.
In February this year, Wexler and a team of researchers made their way to the shores of Lake Maracaibo, Venezuela.
From the impoverished town of San Luis the odds of losing at genetic roulette the tiny fishing village of Laguneta, she went from house to house collecting blood and skin samples.
Nancy Wexler's team learned, through the the odds of losing at genetic roulette of a local physician, that in the early 1800s a woman in the area contracted HD.
The woman had numerous children and today has some 3,000 descendents.
Among those living the odds of losing at genetic roulette the lake, there are 100 Huntington's victims and another 1,100 at risk.
Here the team found enough victims and carriers to test Gusella's DNA probes for linkage between the defective gene and a DNA marker.
Last month, at a genetics conference at the Jackson Laboratory in Bar Harbor, Maine, sponsored by the March of Dimes and Johns Hopkins University, scientists reported the development of a simple screening test for Huntington's which is 90 percent accurate in determining the presence of the fatal gene -- a test that could be used on unborn fetuses or on adults.
Huntington's affects the basal ganglia, a bundle of nerve cells in the middle of the brain which are responsible for regulating involuntary muscle movement.
read article the later stages, through X-ray, you can see the basal ganglia shriveled up," said Thomas N.
Chase, director of experimental therapeutics at the National Institutes of Health.
First symptoms of the illness can appear as early as age 2, or as late as age 80.
Symptoms may include fidgeting, restlessness and impatience.
Usually HD strikes its victims between the ages of 20 the odds of losing at genetic roulette 40.
As the disease progresses, movements become uncontrollable and sometimes violent.
Speech becomes slurred and unintelligible, as the odds of losing at genetic roulette the person were under the influence of alcohol.
The head snaps back and forth, making eating a chore.
Many Huntington's patients are malnourished and some even die from starvation due to the difficulty of ingesting food, said Wexler.
HD sufferers often have hallucinations and illusions.
They become uncontrollably violent and have a difficult time harnessing their impulses, which causes them to fly into fits of rage.
Seizures are often triggered by frustrations tales the abyss casino trick anxiety sparked by the difficulty check this out performing simple daily tasks like feeding themselves or tying a shoe.
When the fit is over they are extremely remorseful.
So in a way, it's worse than Alzheimer's.
Many patients suffer from mild to severe psychiatric problems, mostly depression, signs that are pronounced years before the physical symptoms become apparent.
Milton Wexler says he has seen none of those early signs in his two daughters.
The government has to carry it.
We can get people interested and provide seed money, but we can't carry it.
For long-term catastrophic care, forget it in this country.
Keep supporting great journalism click at this page turning off your ad blocker.
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