Monday, December 9th, 2013
Fifteen-year-old Hayley Mogul and her 9-year-old sister both extremely rare genetic disorders–so rare, that a cure isn’t even being sought by scientists–that has had severe neurological and metabolic consequences for the sisters. But their participation in cutting edge research that combines stem cell and genetic techniques may give hope to future generations. NBC News reports:
There’s no cure for their rare disorders, caused by unique genetic mutations. But for once, there’s an advantage to having conditions so rare that drug companies cannot even think of looking for a cure. The sisters are taking part in a whole new kind of experiment in which scientists are literally turning back the clock on their cells.
They’re using an experimental technique to transform the cells into embryonic form, and then growing these baby cells in lab dishes.
The goal is the get the cells to misfire in the lab in just the same way they are in Hayley’s and Bari’s bodies. It’s a new marriage of genetics and stem cell research, and represents one of the most promising applications of so-called pluripotent stem cells.
“One day these two girls will probably change the face of medicine as we know it,” said their father, Steven Mogul.
Steven and Robyn Mogul don’t understand why both their daughters ended up with the rare mutations, which cause a range of neurological and metabolic problems.
“We have been tested,” said Mogul, a 45-year-old wealth manager living in Chicago. “We don’t have any mutations, and there are no developmental issues. We have no idea how it happened. “
The girls need special schooling and physical therapy. They must wear diapers, and when they get a cold or the flu, they can develop dangerously low blood sugar. “When the kids get sick, get colds or flu, we have to get them to the hospital,” Mogul said.
Hayley, 15, has a mutation in a gene called RAI1, which can cause Smith-Magenis syndrome. The syndrome affects 1 in 25,000 people and can disturb sleep patterns, cause obesity and behavioral issues. But Hayley’s mutation is unique and puzzling. Bari, 9, has an RAI1 mutation and a similarly unique mutation in the GRIN2B gene, which can cause learning disabilities.
“Bari doesn’t talk,” Mogul said. “She walks around, she gets around and lets you know what she wants. She is eating baby food and she is drinking from bottles.”
Hayley can attend school and can read, but lacks the fine motor skills needed to write. It’s especially unusual for two children in the same family to end up with such rare, and different, mutations.
Image: DNA, via Shutterstock
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Monday, December 10th, 2012
A new blood test is being examined to see whether it can detect genetic markers that can identify autism spectrum disorders (ASD). If successful, the test would greatly improve doctors’ ability to diagnose the disorders–and begin interventions–earlier. More from CNN.com:
“In a study published in the journal PLOS ONE, researchers from Children’s Hospital Boston describe a new experimental test to detect the developmental disorder, based on the differences in gene expression between kids with autism spectrum disorder (ASD) and those without the condition.
The blood-based test appears to predict autism relatively accurately, at least among boys, and has already been licensed to a company, SynapDx, for commercial development. In an e-mail statement to TIME, a spokeswoman for SynapDx said the company plans to start clinical trials of the new test in early 2013.
The new blood test for autism is intriguing, researchers say, because it seems to be at least as effective as any other genetic test for autism that doctors currently use. Scientists believe that autism has some genetic basis, based on genes that have been associated with the disorder, and the fact that the condition seems to run in families.
“A week does not go by where you don’t hear about a genetic mutation that has been linked to autism in at least a few families,” says Isaac Kohane, a pediatric endocrinologist and computer scientist at Children’s Hospital Boston, and the senior study author on the new article in PLOS ONE. Kohane is a scientific adviser for SynapDx, but says he does not own any stock in the company.
But autism is a complex condition, he says, with many possible genetic determinants. And the precise genetic mechanism, or more likely mechanisms, are still poorly understood.”
Image: Blood test tubes, via Shutterstock
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Thursday, November 29th, 2012
A relatively new type of blood test that can detect genetic diseases including Down syndrome in pregnant women is making news because it is so much less invasive than amniocentesis, a procedure that carries a small risk of miscarriage, and can be conducted at 10 weeks gestational age. But the new test–three are currently on the market–is expensive, costing nearly $2,000, and is not yet regulated by the Food and Drug Administration. More from The Washington Post:
“Tens of thousands of women have used them, according to the companies that sell the tests. But they are not subject to regulation by the Food and Drug Administration, and questions have been raised about a technology whose accuracy and role are still being assessed. As a result, no major insurance company has yet agreed to cover the tests, whose list prices range up to $1,900.
New medical technologies often challenge a health-care industry grappling with pressures to control costs. It’s not yet clear whether the new tests will cut costs and miscarriages by reducing invasive prenatal diagnostic procedures such as amniocentesis or inflate costs because they’re used by women who probably would never have opted for amnio because of miscarriage fears. (The established tests are performed about 200,000 times annually in the United States and cost roughly $2,500 in the Washington area.)
With the new tests, fragments of fetal DNA extracted from the mother’s blood sample are checked for increased amounts of material from chromosomes 21, 18 and 13, a sign that the fetus carries three instead of the normal two copies of those chromosomes.
In this case, more is not better. Having an extra copy of 21, a condition called trisomy 21, is the main cause of Down syndrome, while having a third copy of 18, a condition called trisomy 18, causes a less common disorder named Edwards syndrome. Trisomy 13 is also known as Patau syndrome. All three conditions are linked to serious developmental and medical problems.
Standard first-trimester screening for these genetic conditions can be performed as early as 11 weeks’ gestation. It consists of a blood test to check levels of pregnancy-associated proteins and hormones in the mother’s blood and an ultrasound to look for extra fluid under the skin at the back of the fetus’s neck. The results are usually available within a week.
Used together, the standard blood tests and ultrasound can detect about 90 percent of Down syndrome cases and an even greater proportion of trisomies 18 and 13. But there’s a false-positive rate of about 5 percent, and only amniocentesis or the much less commonly used chorionic villus sampling, another invasive test that can cause miscarriage, can provide a definitive answer.”
Image: Pregnant woman talking to doctor, via Shutterstock
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Wednesday, August 10th, 2011
A study published online in the Journal of the American Medical Association has shown that a simple blood test–using maternal blood, not fetal blood drawn through an amniocentesis or other invasive procedure–can determine with 95 percent accuracy the gender of a fetus at 7 weeks of gestation. Other methods, the most common being ultrasound, are not considered reliable until around the 20 week mark.
The blood tests are performed at home by the pregnant woman, who simply pricks her finger and collects a drop of blood. She then sends the sample to a lab where it is analyzed for the chromosomal markers that determine whether the woman is carrying a boy or a girl.
The tests have been available online at sites like this for years, but this new study is the first to confirm the tests’ accuracy rate and examine their potential for prenatal care–both positive and negative. On one hand, the tests can allow parents to screen for gender-linked genetic diseases. On the other hand, the test could be used to take what The New York Times calls “the more ethically controversial step of selecting the sex of their children.”
Giving some women pause is the fact that the tests are not regulated by the Food and Drug Administration because they are not used for medical purposes, The New York Times reported. Also, the tests are expensive, costing upwards of $250 for lab fees and other processing.
(image via: http://www.topnews.in)
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