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 9th, 2013
A new method of treating–and possibly even curing–severe peanut allergies is being developed and tested by researchers at Boston Children’s Hospital. More from Boston.com:
In a small study involving 13 children at high risk for having severe allergic reactions to peanuts, Boston Children’s Hospital researchers first administered an injectable asthma drug every few weeks for 12 weeks, before having the children eat peanuts, in order to dampen their immune system’s response to peanut protein. The children continued to receive the drug—called omalizumab—for another 8 weeks as they gradually ate an increasing number of peanuts.
Twelve of the children were eventually able to eat the equivalent of 10 peanuts a day even after they went off the drug, according to the findings published in the December issue of the Journal of Allergy and Clinical Immunology.
Most did, however, experience allergic reactions during the first few weeks before their immune systems became desensitized to the peanut protein. Five children had moderate allergic reactions such as wheezing, nausea, and shortness of breath, and two children had more severe reactions like a full-blown asthma attack. One child dropped out of the study after experiencing nausea and vomiting from eating peanuts, which didn’t abate for several weeks.
(None of the children had side effects from omalizumab, which in rare cases can cause life-threatening allergic reactions like anaphylaxis.)
“An important goal is to prevent life-threatening allergic reactions in those who eat peanuts accidentally,” said study leader Dr. Lynda Schneider, director of the allergy program at Boston Children’s Hospital. “We’re cautiously hopeful that some will be able to include peanuts in their diet every day, but we’re not ready to call this a cure.”
Image: Peanuts, via Shutterstock
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Wednesday, December 4th, 2013
The hormone oxytocin may help the social brain functioning of children with autism spectrum disorders (ASD), a new Yale University study has found. More from The Boston Globe:
Years of research has revealed the potent effects of oxytocin, a hormone that is naturally released during childbirth and has been nicknamed the “love hormone” for the role it appears to play in pair bonding, whether between couples or mother and baby. Then researchers began to administer the hormone to people in non-romantic situations, to see whether it would change their behavior.
The results were intriguing, suggesting that it helped increase cooperation and trust. As the hormone’s ability to enhance social responses was replicated in other studies, researchers began to wonder whether oxytocin might be helpful for people with autism spectrum disorders, which are characterized by impaired social functioning.
In the new work, published Monday in the Proceedings of the National Academy of Sciences, the Yale researchers measured what happened in the brains of 17 children with autism spectrum disorder when they inhaled the hormone or a placebo, and were then directed to perform tasks in a brain scanner that used functional MRI technology. One task was designed to use the social parts of the brain—the children were asked to intuit the emotion a person was experiencing by looking at a photo of their eyes. In another, they were simply asked to identify a vehicle.
What the researchers found was that a single spray of the hormone increased functioning in the social parts of the brain when the children were confronted with the eye-reading task, while the activity in those areas decreased during the vehicle-naming task. Their performance on the task was not different, but researchers think the brain signals indicate that oxytocin made the social stimuli more relevant and rewarding.
“What’s happening in the brain, we think, is that oxytocin is improving how well we are tuning in to social stimuli, to a social world,” said Ilanit Gordon, an experimental psychologist who did the work at the Yale Child Study Center and is now an assistant professor at Bar-Ilan University in Israel.
Image: Smiling boy, via Shutterstock
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Tuesday, December 3rd, 2013
Kids who throw food may actually be displaying signs they are learning, according to research from the University of Iowa. More from Time.com:
Researchers from the University of Iowa (UI) studied how 16 month olds learn the words for non-solid objects—things as oatmeal or applesauce or milk—that infants generally take longer to learn and found that those who messed with the substance the most learned the words more quickly. Babies’ brains usually pick up words for more immutable objects such as blocks, apples, or daddy, more easily because they can prod and pinch them and they remain the same, more or less, while non-solid objects are a bit more confusing. Think about applesauce: sometimes it’s shaped like a bowl, sometimes like a spoon and sometimes like a big blob on the floor. Or consider the similarities between glue and milk; if you didn’t touch them, they could seem pretty similar.
To test how toddlers learned the names of gloppy, changeable substances, researchers introduced 14 oozy items, mostly things the kids could safely put in their mouths, like applesauce, pudding, juice, or soup. As they offered the kids the items, they gave them made up names, such as “dax” or “kiv.” A short while later they asked the kids if they knew the name of one of the substances, presented in a different size or shape. Kids who could remember the name of the item were obviously relying on more than just what it looked like.
The kids who had really got their hands—and sometimes the walls or floors—dirty, seemed to be the ones who understood the differences in texture or viscosity better. All that fooling around was actually learning. It also helped if they were in a high chair. “It turns out that being in a high chair makes it more likely you’ll get messy, because kids know they can get messy there,” said Larissa Samuelson, associate professor in psychology at UI, who with doctoral student Lynn Perry and others, oversaw the Developmental Science paper. “Playing with these foods there actually helped these children in the lab, and they learned the names better.”
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Sesame Street Lessons: Advice for Picky Eaters
Tuesday, December 3rd, 2013
The age at which a baby is offered her first solid food may affect the likelihood that she develops food allergies later in childhood, according to new research by British scientists. Breastfeeding exclusively for 4-6 months, then introducing solid foods while still breastfeeding, the researchers found, is the best way to prevent food allergies from developing. More from The New York Times:
British researchers followed a group of 1,140 infants from birth to 2 years, while their mothers completed diaries detailing the babies’ diets and noting suspected allergic reactions to food, which researchers later confirmed by testing. They found 41 babies with confirmed food allergies, and compared them with 82 age-matched healthy controls. All were born between January 2006 and October 2007.
After controlling for birth weight, the duration of pregnancy, maternal allergies and many other factors, they found that 17 weeks was the crucial age: babies who were introduced to solids before this age were significantly more likely to develop food allergies.
The study, published online in Pediatrics, found that continuing to breast-feed while introducing cow’s milk also had a protective effect against allergies. The authors suggest that the immunologic factors in breast milk are what provide the advantage.
The researchers advised that mothers who are not breastfeeding also wait until after 17 weeks to introduce solids.
Learn how to make fresh baby food at home with our helpful guide. Then, download our charts and checklists to keep track of Baby’s important info.
Image: Baby food, via Shutterstock
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