Wednesday, March 26th, 2014
Researchers have developed a test children can take around the age of five that may help identify children that are at risk for becoming obese. The test would analyze the PGC1a gene, which controls fat storage. The study leaders hope this test will help those kids with an increased risk to learn more about healthy living from an earlier age. More from the University of Southampton:
Scientists have found that a simple blood test, which can read DNA, could be used to predict obesity levels in children.
Researchers at the Universities of Southampton, Exeter and Plymouth used the test to assess the levels of epigenetic switches in the PGC1a gene – a gene that regulates fat storage in the body.
Epigenetic switches take place through a chemical change called DNA methylation which controls how genes work and is set during early life.
The Southampton team found that the test, when carried out on children at five years old, differentiates between children with a high body fat and those with a low body fat when they were older. Results showed that a rise in DNA methylation levels of 10 per cent at five years was associated with up to 12 per cent more body fat at 14 years. Results were independent of the child’s gender, their amount of physical activity and their timing of puberty.
Dr Graham Burdge, of the University of Southampton who led the study with colleague Dr Karen Lillycrop, comments: “It can be difficult to predict when children are very young, which children will put on weight or become obese. It is important to know which children are at risk because help, such as suggestions about their diet, can be offered early and before they start to gain weight.
“The results of our study provide further evidence that being overweight or obese in childhood is not just due to lifestyle, but may also involve important basic processes that control our genes. We hope that this knowledge will help us to develop and test new ways to prevent children developing obesity which can be introduced before a child starts to gain excess weight. However, our findings now need to be tested in larger groups of children.”
The study, which also involved Professor Terence Wilkin at the University of Exeter and Dr Joanne Hosking at the University of Plymouth, is published in the journal Diabetes. The researchers used DNA samples from 40 children who took part in the EarlyBird project, which studied 300 children in Plymouth from the age of five until they were 14 years old.
Led by Professor Wilkin, the study assessed the children in Plymouth each year for factors related to type 2 diabetes, such as the amount of exercise they undertook and the amount of fat in their body. A blood sample was collected and stored. The Southampton team extracted DNA from these blood samples to test for epigenetic switches.
Professor Wilkin says: “The EarlyBird study has already provided important information about the causes of obesity in children. Now samples stored during the study have provided clues about the role of fundamental processes that affect how genes work, over which a child has no control. This has shown that these mechanisms can affect their health during childhood and as adults.”
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Image: Dna double helix molecules and chromosomes via Shutterstock
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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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Thursday, September 5th, 2013
A new series of US government-funded studies investigating the possibility of screening the entire genome of newborn infants is raising excitement among some parents, concern among others. At issue is whether such DNA mapping would help parents prepare and cope with their kids’ health conditions, or whether the tests would provide more information than parents can reasonably be expected to handle. NBC News has more:
Do parents even want to know what fate might await their babies? Can doctors find out anything useful medically? Do you get information that freaks you out? All over the country, thousands of newborns will be enrolled in this experiment, the National Institutes of Health announced on Wednesday.
They’re not necessarily looking for new diseases in the babies yet, says Dr. Eric Green, director of the NIH’s National Human Genome Research Institute (NHGRI). They want to know what happens if you even go down this road of whole-genome sequencing.
Now’s the time, he said, as companies begin offering these tests on the market and as more and more people seek to find out just what their genes say about their health. “Everything is moving so fast,” Green told reporters on a conference call.
“We really want to take advantage of this window of opportunity to answer key questions about the technical, ethical, social implications while we have a chance to do it,” Green added. “If it turns out this is something that is worth doing, we would answer questions about how to make it most effective.”
Green’s genome institute and the National Institute of Child Health and Human Development (NICHD) has set aside $25 million for the next five years to study the matter, starting out with $5 million to four institutions: Brigham and Women’s Hospital and Boston Children’s Hospital; Children’s Mercy Hospital in Kansas City; the University of California, San Francisco and the University of North Carolina at Chapel Hill.
Each center will take a different approach. For example, UCSF will test blood drops previously collected from 1,400 California children who were already given newborn screening tests. Boston Children’s will recruit 480 newborns starting early next year, giving half the standard screening and half an extra genome test.
Most of the 4 million children born in the U.S. each year get a heel-prick test that takes a drop of blood to screen for genetic diseases such as phenylketonuria, sickle-cell disease, cystic fibrosis and thyroid disorders. The precise panel differs from state to state but usually covers around 30 disorders.
One reason to do the tests, says NICHD director Dr. Alan Guttmacher, is to intervene early, before the child gets sick. Phenylketonuria or PKU is a classic example. It’s an inability to process an amino acid called phenyl lanine, which can build up in the brain and cause permanent damage. “By knowing the baby has the disease early, parents can modify the baby’s diet to remove phenylalanine and prevent damage,” Guttmacher said. “Prevention is the only effective solution.”
The heel-prick tests cost around $100. Whole-genome screening covers not only known genetic defects, but the entire DNA map. Commercial tests – which don’t look at every stretch of DNA – cost about $5,000.
Image: Infant getting blood test, via Shutterstock
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Thursday, July 18th, 2013
A potentially game-changing discovery on the developmental and intellectual disorder Down syndrome has been made by researchers at the University of Massachusetts Medical School, who were able to shut down the “extra” chromosome that causes the disorder using human cells grown in a laboratory dish. It is a finding that medical experts are causing “revolutionary,” as The Boston Globe reports:
“It really is revolutionary, in terms of causing us all to rethink the one impossible thought—can you make, functionally, that extra chromosome disappear,” said Dr. Brian Skotko, co-director of the Down Syndrome Program at Massachusetts General Hospital, who was not involved in the new study. “I don’t think any of us thought it was possible or even within the current realm of scientific dreaming that we might one day be able to do it.”
The discovery, published Wednesday in the journal Nature, highlights a broad shift in how scientists, doctors, and families view Down syndrome. In the decades since the chromosome abnormality was identified in 1959, there had been little serious talk about trying to treat its complex underlying biological cause. But research and advocacy are beginning to change the discussion: At Mass. General, two clinical trials of drugs intended to improve the cognitive capacities of adults with Down syndrome are set to start in the next few months.
The hope is that drug therapies, even given in adulthood, could partly restore normal function in the brains of people with Down syndrome. But the condition alters brain development in the womb, so some scientists believe that to be most effective, therapies would need to be administered during pregnancy. Nobody is sure whether the UMass technique could ever be leveraged as a treatment either.
Two drugs will be tested at Mass. General, one made by the Swiss pharmaceutical company, Roche, and another by Elan Corporation in Ireland.
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The idea of treating the core problems of Down syndrome and not just the medical problems that accompany it, appeals to families, even though such drugs would be unable to reverse all the developmental problems.
Image: Laboratory dishes, via Shutterstock
Monday, July 1st, 2013
Britain plans to become the world’s first country to implant genetically modified embryos. The methods are still in the research phase in both the US and Britain, but the techniques would help families avoid passing down incurable mitochondrial diseases through the maternal line—such as fatal heart problems, brain disorders, muscular dystrophy, and blindness—which affects one in 6,500 children according to NBC News.
The process works by replacing these faulty portions of the DNA with healthy segments from a donor woman, hence the name “three-parent” in vitro fertilization (IVF). Several approaches are being studied. Britain’s Newcastle University is studying pronuclear transfer, which swaps DNA between two fertilized human eggs. Another technique being developed is called the maternal spindle transfer, which swaps out the faulty DNA before fertilization. So far, studies have shown that these procedures are likely to be both safe and effective.
However, this kind of genetic intervention raises serious ethical questions. Critics worry that these procedures could pave the way for “designer babies,” with genetically modified features like height and eye color. Yet, in a national public consultation, Britons broadly favored the idea, making it likely that the procedures should be allowed to proceed under strict federal regulations.
New guidelines must be created to cover these treatments and are expected to be published later this year. If approved by a vote in Parliament, this would make Britain the first country to offer the option of mitochondrial DNA transfer to it’s citizens. Chief medical officer, Sally Davies, hopes the first patients will be able to undergo treatment in the next two years.
Image: Ultrasound of embryo, via Shutterstock
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