September 20, 2012 |
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.
June 6, 2012 |
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.
September 17, 2010 |
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.
August 9, 2010 |
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.
March 15, 2010 |
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?
February 12, 2007 |
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.