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Genetic Disorders

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CALIFORNIA | LOCAL
July 27, 2005 | Wendy Thermos, Times Staff Writer
State health officials announced Tuesday the launch of an expanded program to screen every newborn in California for 75 genetic disorders, some of them potentially deadly. Screening for sickle-cell anemia, hypothyroidism and 37 other congenital diseases has been mandatory in California since 1980. Legislation signed last year by Gov. Arnold Schwarzenegger nearly doubled the number of targeted conditions. California is one of only 13 states that screens for more than 30.
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SCIENCE
February 26, 2014 | By Monte Morin
It's billed as a faster, safer and more accurate way of screening expectant mothers for fetal abnormalities like Down syndrome, and proponents say it has already become the standard for prenatal care. But as a handful of California companies market their DNA-testing services to a growing number of pregnant women, some experts complain that the tests have not been proven effective in the kind of rigorous clinical trials that are required of new drugs. Now, a study published Wednesday by the prestigious New England Journal of Medicine has verified that one of the tests can identify likely cases of Down syndrome and other genetic disorders caused by extra chromosomes in low-risk women with greater reliability than traditional noninvasive screening methods.
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SCIENCE
July 12, 2005 | Rosie Mestel, Times Staff Writer
Most infants born in the U.S. are not being screened at birth for the full slate of 29 serious genetic disorders that are treatable if caught early, according to a report released today by the March of Dimes. The report found 23 states screening for 20 or more of the conditions, 12 states that tested for 10 to 20, and 15 states plus the District of Columbia that screened for fewer than 10. One state, Mississippi, screened for all 29 conditions.
SCIENCE
May 30, 2013 | By Eryn Brown
My grandmother, who raised some great family dogs, always said that mutts made the smartest and healthiest pets. A new study of the medical records of more than 90,000 purebred and mixed-breed dogs suggests that there is some truth to Grandma's theories on canine health - but only to a point.  When it comes to genetic disorders in dogs, a Maltese isn't always more likely to suffer than a mongrel. Prevalence “among purebred and mixed-breed dogs depends on the specific condition,” said UC Davis animal physiologist Anita Oberbauer, lead author of a report published Tuesday in the online edition of the Journal of the American Veterinary Medical Assn.
MAGAZINE
April 29, 1990 | MYRA VANDERPOOL GORMLEY, This article was excerpted from the book, "Family Diseases: Are You at Risk?" by Myra Vanderpool Gormley, 1989, $14.95, published by Genealogical Publishing Co., 1001 N. Calvert St., Baltimore, Md. 21202
Few families are not affected in some way by genetic disorders, whether a crippling and devastating disease such as cystic fibrosis, a chronic condition like high blood pressure or a predisposition to alcoholism or mental illness. Yet most of us know very little about genetic diseases--what they are, how they are transmitted, how they may be screened or treated, even how to find information about them. Indeed, few of us know whether we or our children are at risk from such afflictions.
SCIENCE
June 6, 2012 | By Rosie Mestel, Los Angeles Times
Scientists have pieced together the entire DNA sequence of an 18-week-old fetus without having to use any invasive tests that could result in a miscarriage - an advance that offers a glimpse of the future of prenatal testing. Using blood drawn from the mother and a sample of saliva from the father, the researchers were able to scan the fetus' genome and determine whether it contained any of the myriad single-letter changes in the DNA code that can cause a genetic disorder. They could even pinpoint which mutations were inherited from Mom, which came from Dad, and which were brand-new.
SCIENCE
May 30, 2013 | By Eryn Brown
My grandmother, who raised some great family dogs, always said that mutts made the smartest and healthiest pets. A new study of the medical records of more than 90,000 purebred and mixed-breed dogs suggests that there is some truth to Grandma's theories on canine health - but only to a point.  When it comes to genetic disorders in dogs, a Maltese isn't always more likely to suffer than a mongrel. Prevalence “among purebred and mixed-breed dogs depends on the specific condition,” said UC Davis animal physiologist Anita Oberbauer, lead author of a report published Tuesday in the online edition of the Journal of the American Veterinary Medical Assn.
CALIFORNIA | LOCAL
November 27, 1989 | Compiled from Times staff and wire reports
A safer, easier technique--involving only a tablespoon-size sample of a mother's blood taken as early as eight weeks into a pregnancy--is being developed to test for hidden genetic disorders in a fetus. At present, if women are troubled by the idea of possibly carrying a genetically damaged fetus, there are only two ways to settle the question: amniocentesis and chorionic villus sampling.
OPINION
March 15, 2010 | By H. Gilbert Welch
Here's a question that's not being asked in the healthcare debate: How much medical care do we want in our lives? It's something we should be discussing. Start with the two life events we all experience, birth and death. My profession has gotten pretty good at terrifying (and operating on) pregnant women during what should be one of the greatest experiences in life. And we are equally proficient at dragging the elderly through all sorts of misery on the road to death. Too harsh, you say?
CALIFORNIA | LOCAL
July 29, 1994 | JAIME ABDO, TIMES STAFF WRITER
UC Irvine researchers announced Thursday that they have identified the gene that causes the most common form of dwarfism, called achondroplasia, the latest discovery in the controversial field of prenatal diagnosis. Molecular biologist John Wasmuth said the discovery will allow physicians to determine whether a fetus has the most severe type of achondroplasia. That form is invariably fatal shortly after birth.
SCIENCE
September 20, 2012 | By Alan Zarembo, Los Angeles Times
An experimental drug can improve sociability in patients with fragile X syndrome and may be helpful as a treatment for autism, according to the authors of a new study. Fragile X is a rare genetic disorder that affects about 1 in 4,000 boys and 1 in 8,000 girls, according to the National Institutes of Health. It usually results in mental retardation and - in about half of cases - some form of autism. In fragile X, which accounts for 2% of autism cases, a mutation in a gene on the X chromosome turns off production of a regulatory protein known as FMRP.
SCIENCE
June 6, 2012 | By Rosie Mestel, Los Angeles Times
Scientists have pieced together the entire DNA sequence of an 18-week-old fetus without having to use any invasive tests that could result in a miscarriage - an advance that offers a glimpse of the future of prenatal testing. Using blood drawn from the mother and a sample of saliva from the father, the researchers were able to scan the fetus' genome and determine whether it contained any of the myriad single-letter changes in the DNA code that can cause a genetic disorder. They could even pinpoint which mutations were inherited from Mom, which came from Dad, and which were brand-new.
SCIENCE
September 17, 2010 | By Thomas H. Maugh II, Los Angeles Times
For the second time, researchers have used the HIV virus in gene therapy to cure a severe genetic disease, this time the blood disorder beta-thalassemia, which causes life-threatening anemia. French researchers had previously used a "defanged" version of the virus that causes AIDS to cure two boys with the rare disorder adrenoleukodystrophy, which was at the heart of the popular movie "Lorenzo's Oil. " Beta-thalassemia is a much more common disease, and although the new research involved only one patient, it suggests that this approach could have wide applicability.
SPORTS
August 9, 2010 | Bill Dwyre
UCLA's Ben Howland wishes he could run a zone trap on this one. He'd like to surround it, smother it until it can't function, wipe it out forever. But he can't. It is called Huntington's disease, a terrible affliction with no effective treatment and no cure and something that hovers over his family like a dark cloud. Four years ago, Howland's father-in-law, Arlo Zahnow, died of Huntington's at age 74. At the end, after years of walking with a lurch and gesturing wildly from uncontrollable limbs, Zahnow was unable to even do that.
OPINION
March 15, 2010 | By H. Gilbert Welch
Here's a question that's not being asked in the healthcare debate: How much medical care do we want in our lives? It's something we should be discussing. Start with the two life events we all experience, birth and death. My profession has gotten pretty good at terrifying (and operating on) pregnant women during what should be one of the greatest experiences in life. And we are equally proficient at dragging the elderly through all sorts of misery on the road to death. Too harsh, you say?
HEALTH
February 12, 2007 | Shari Roan, Times Staff Writer
Within a few years, a pregnant woman may be able to have a simple blood test to determine whether the child she is carrying is afflicted with a number of serious genetic disorders -- Down syndrome, cystic fibrosis and Tay-Sachs disease among them. Three studies published or presented this month demonstrate how fetal DNA can be isolated from the mother's blood and checked for genetic abnormalities.
CALIFORNIA | LOCAL
April 21, 1985 | From United Press International
People arrested for exhibitionism may unknowingly suffer from Tourette Syndrome and can be helped with a drug that suppresses the compulsive behavior characteristic of the genetic disorder, a new study shows. Clinical tests at City of Hope on Tourette victims showed that compulsive exhibitionist tendencies and obsessive thoughts associated with it were suppressed by the drug haloperidol.
CALIFORNIA | LOCAL
November 12, 1994
A College of the Canyons student who was found unconscious behind the campus bookstore this week died of a ruptured blood vessel apparently caused by a genetic disorder and not from an accidental fall as originally thought, authorities said Friday. Libertine Oxciano, 21, of Santa Clarita was discovered lying face down in the road moments after her brother dropped her off at the community college Tuesday morning. She died minutes later at a local hospital.
CALIFORNIA | LOCAL
July 27, 2005 | Wendy Thermos, Times Staff Writer
State health officials announced Tuesday the launch of an expanded program to screen every newborn in California for 75 genetic disorders, some of them potentially deadly. Screening for sickle-cell anemia, hypothyroidism and 37 other congenital diseases has been mandatory in California since 1980. Legislation signed last year by Gov. Arnold Schwarzenegger nearly doubled the number of targeted conditions. California is one of only 13 states that screens for more than 30.
BUSINESS
July 18, 2005 | From Associated Press
Brad Margus was making a killing in the shrimp business and living happily in South Florida with his wife and three young boys. Then his two youngest were diagnosed with a fatal genetic brain disorder that's as rare as it is unpronounceable. It's called ataxia-telangiectasia, better known as "A-T," and it afflicts about 500 youngsters in the United States.
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