Sunday, June 24, 2012

Blood Test May Spot Genetic Disease in Fetuses

 Samples of blood and saliva from parents-to-be may help identify thousands of genetic disorders in fetuses soon afterconception without invasive testing, researchers say.
In a study published today in the journal Science Translational Medicine, researchers from the University of Washington report that they were able to determine the complete DNA sequence of two babies in the womb by analyzing blood samples from the mother and saliva samples from the father.
Genetic predictions were confirmed once the babies were born by analyzing umbilical cord blood collected at birth.
The test is not ready for use yet. Although cost and technological challenges remain, the research could lead to a simple non-invasive test to identify more than 3,000 disorders caused by single-gene mutations, says study co-author Jay Shendure, MD, PhD.
"Many of these diseases are so rare that most people have never heard of them, but collectively they affect around 1% of births," Shendure tells WebMD.

Fetal DNA in Mom's Blood

Only a few genetic disorders, including Down syndrome, are screened for duringpregnancy. They use invasive and potentially risky procedures such as amniocentesis and chorionic villus sampling.
The search is underway for less invasive tests using blood samples from pregnant women instead of fluid from the uterus. That's based on the recognition that fetal DNA is present in the blood of pregnant women at varying concentrations during pregnancy.
In the newly published study, researchers confirmed that blood taken from an expectant mother about 18 weeks into her pregnancy and saliva specimens taken from the father contained enough genetic information to map the DNA code of thedeveloping fetus.
The finding was later confirmed in another expectant couple with blood taken from the mother even earlier in her pregnancy.
Doctoral candidate Jacob Kitzman, who led the study, says the researchers were able to identify new mutations in fetuses not shared with either parent.
Because these mutations are the cause of many genetic disorders, searching for them is critical for a comprehensive test, Kitzman tells WebMD.

Interpreting Data Remains a Challenge

Mutations have been linked to more complex disorders influenced by genes, including autism, epilepsy, and schizophrenia. But it remains to be seen if fetal DNA mapping will be useful for assessing a baby's risk for these and other disorders in a clinical setting.
However, the capacity to collect data by mapping an unborn baby's DNA has outpaced medical science's ability to interpret the data in ways that are useful to doctors and patients, Shendure points out.
"Although the noninvasive prediction of a fetal genome is now technically feasible, its interpretation ... will remain an enormous challenge," he noted in a news statement.
Pediatrician and genetic disease specialist Arthur Beaudet, MD, agrees. He is professor and chair of the department of molecular and human genetics at Baylor College of Medicine in Houston. Beaudet did not work on the new test.
"We are increasingly going to have this kind of genetic information about ourselves and our children and even our unborn children," he tells WebMD, adding that as the cost of gene sequencing drops the research should lead to better, cheaper, and less invasive tests to identify genetic disease risk early in pregnancy.



Why hopeful Dads should quick smoking now

A new research report appearing online in the FASEB Journal, scientists show for the first time in humans that men who smoke before conception can damage the genetic information of their offspring. These inherited changes in DNA could possibly render an offspring in the womb susceptible to later disease such as cancer.

This provides evidence showing why men should be urged to stop smoking before trying to conceive in the same way women have been urged to quit. Interestingly, a fertile sperm cell takes about three months to fully develop; therefore men would ultimately need to quit smoking long before conception to avoid causing genetic problems.
"That smoking of fathers at the time around conception can lead to genetic changes in their children indicates that the deleterious effects of smoking can be transmitted through the father to the offspring," said Diana Anderson, Ph.D., a researcher involved in the work from the School of Life Sciences at the University of Bradford, in the United Kingdom. "These transmitted genetic changes may raise the risk of developing cancer in childhood, particularly leukemia and other genetic diseases. We hope that this knowledge will urge men to cease smoking before trying to conceive."
To make this discovery, Anderson and colleagues used DNA biomarkers to measure genetic changes in the paternal blood and semen around conception, as well as maternal and umbilical cord blood at delivery in families from two different European regions in central England and a Greek island. Information regarding the lifestyle, environmental and occupational exposures of these families was taken from validated questionnaires. The combined analysis of exposures and DNA biomarkers was used to evaluate the role of exposures before conception and during pregnancy in the causation of genetic changes in the offspring. These results have strong implications for the prevention of disease.
"This report shows that smoking is a germ cell mutagen. If dad uses cigarettes, his kids will be affected even before they are born," said Gerald Weissmann, M.D., Editor-in-Chief of theFASEB Journal. "As Father's Day approaches, family members may want to give dads and prospective dads the help they need to quit smoking for good."

Federation of American Societies for Experimental Biology. "Another reason why dads and hopeful dads should quit smoking now." ScienceDaily, 23 Jun. 2012. Web. 25 Jun. 2012.

Pro-inflammatory genetic profile and familiarity of acute myocardial infarction


Acute myocardial infarction (AMI) or heart attacks as they are more commonly known is a multifactorial disease with a complex pathogenesis where lifestyle, individual genetic background and environmental risk factors are involved. Altered inflammatory responses are implicated in the pathogenesis of atherosclerosis and a premature AMI of parents is associated with an increased risk of the disease in their offspring.

However, the genetic background of familiarity for AMI is still largely unknown. To understand which genes may predispose to increased risk of cardiovascular disease gene polymorphism of immune regulatory genes, and clinical events from the Offs of parents with an early AMI were investigated.

Genetics data from Offs were compared with those obtained from healthy subjects and an independent cohort of patients with clinical sporadic AMI. Rates of clinical events during a 24 years follow up from Offs and from an independent Italian population survey were also evaluated. 

To read the entire article and the resutls please click here

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Taken from - this had to be posted for our Gene synthesis readers!

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