Category Archives: Genetic Medicine

In a development scientists are calling a "tour de force," researchers have reconstructed the genome of a fetus using DNA samples from the parents.

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Because their technique did not require an invasive test to take samples from the fetus itself, it's an important step toward what could become a low-risk way to identify genetic disorders early in development, experts say.

Currently, "when genetic testing is done, it's done for just a few diseases," said lead author Dr. Jay Shendure, an associate professor of genome sciences at the University of Washington.

A test based on the new technique could detect the roughly 3,000 conditions known as Mendelian disorders, each of which are the result of a single mutated gene, Shendure said. Huntington's disease, hemophilia and sickle-cell anemia fall into this category.

While each of these disorders is relatively rare, together they affect about 1 percent of births, Shendure said.

"This is amazing," said Dr. Ada Hamosh, director of the Institute of Genetic Medicine at the Johns Hopkins University School of Medicine, of the findings. "On the other hand, in no way is this ready for prime time," said Hamosh, who was not involved with the research.

Shendure and colleagues put together the fetal genome using a saliva sample from the father, and a sample of blood plasma from the mother. About 13 percent of the DNA found outside of cells in a pregnant woman's body belongs to her fetus.

They sequenced the regions of DNA they were aiming for with 98.2 percent accuracy.

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New testing could help spot genetic disorders

By contrast, the scientists say their new test would identify far more conditions, caused by genetic errors.

However, they warned it raised many ethical questions because the results could be used as a basis for abortion.

These concerns were last night amplified by pro-life campaigners, who said widespread use of such a test would inevitably lead to more abortions.

The American scientists were able to map the babys genetic code principally from tiny traces free-floating DNA, which makes its way into the mothers blood.

Blood sample DNA from the mother was also studied as well as DNA extracted from the father's saliva.

Fitting pieces of the genetic jigsaw together, scientists in the US were able to reconstruct the entire genetic code of an unborn baby boy.

They were then able to see what spontaneous genetic mutations had arisen.

Such natural mutations - called de novo mutations - are responsible for the majority of genetic defects.

By checking their prediction of the babys genetic code with actual DNA taken after the birth, the team from the University of Washington in Seattle, found they were able to identify 39 of 44 such mutations in the child.

De novo mutations are thought to play a role in a number of complex conditions such as autism and schizophrenia.

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Babies could be tested for 3,500 genetic faults

Scientists at Seattle's University of Washington in the United States have mapped the entire genetic code of an unborn baby using DNA taken from its parents.

In what NewsCore describes as "a major scientific breakthrough", the scientists took small traces of a baby boy's free-floating DNA from the blood of his 18-week pregnant mother. They then tested DNA from her blood sample and DNA from the father's saliva, and were able to reconstruct the baby's entire genetic code.

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The details have been published in Science Translational Medicine.

Its though that the test will become widely available in future and allow doctors to screen unborn babies for an estimated 3,500 genetic disorders, according to The Telegraph. However, they acknowledged that their work raised many ethical questions, because the results "could be used as a basis for abortion."

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"Is this a cause for celebration or alarm?" Time magazine asks. It quotes Jacob Kitzman, the lead author and a graduate student from the University's department of genome science as saying: The fact that this technology is now on the path to becoming clinically feasible is a good opportunity for a broader discussion of the implications.

The New York Times adds that the process is not yet practical, affordable or accurate enough to be used. It says that it currently costs US$20,000 to $50,000 to do one fetal genome.

http://www.globalpost.com/dispatch/news/regions/americas/united-states/120607/us-scientists-map-unborn-babys-entire-genetic-co

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US scientists map unborn baby's entire genetic code using parents' DNA

New Test Uses Mom's Blood, Dad's Saliva to Determine Baby's Genetic Code

June 6, 2012 -- Samples of blood and saliva from parents-to-be may help identify thousands of genetic disorders in fetuses soon after conception 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.

Only a few genetic disorders, including Down syndrome, are screened for during pregnancy. 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 the developing fetus.

The finding was later confirmed in another expectant couple with blood taken from the mother even earlier in her pregnancy.

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Blood Test May Spot Genetic Disease in Fetuses

SAN DIEGO--(BUSINESS WIRE)--

Pathway Genomics Corporation, a clinical genetic testing laboratory and results interpretation service based in San Diego, has been selected by San Diego Venture Group as one of 30 cool companies to be featured at its 10th Annual Venture Summit on June 6. Selected from a field of over 150 applicants, Pathway Genomics and the other 29 companies will be a prominent part of the event, which draws more than 100 venture capitalists and 500 attendees.

The selection is a reminder that companies like Pathway are at the forefront of a major shift in the way medicine is practiced throughout the world, said Jim Plante, Pathways founder and CEO.

Pathway provides genetic tests for drug responses, nutrition and exercise response, inherited genetic conditions, and risk of many diseases. Pathway consists of more than 40 scientific and medical professionals, including medical doctors, molecular geneticists, and genetic counselors, as well as a world-leading scientific advisory board.

To learn more about Pathways genetic testing services, visit http://www.pathway.com. For more information about San Diego Venture Groups Cool Companies 2012 and its 10th Annual Venture Summit, visit http://www.sdvg.org/venturesummit.

About Pathway Genomics

Pathway Genomics owns and operates an on-site genetic testing laboratory that is accredited by the College of American Pathologists (CAP), accredited in accordance with the U.S. Health and Human Services Clinical Laboratory Improvement Amendments (CLIA) of 1988, and licensed by the state of California. Using only a saliva sample, the company incorporates customized and scientifically validated technologies to generate personalized reports, which address a variety of medical issues, including an individuals carrier status for recessive genetic conditions, food metabolism and exercise response, prescription drug response, and propensity to develop certain diseases such as heart disease, type 2 diabetes and cancer. For more information about Pathway Genomics, visit http://www.pathway.com.

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Pathway Genomics Selected as a “Cool Company” by San Diego Venture Group

Editor's Choice Academic Journal Main Category: Genetics Also Included In: Pediatrics / Children's Health;Obesity / Weight Loss / Fitness Article Date: 05 Jun 2012 - 14:00 PDT

Current ratings for: 'Genetic Risk Scores And Obesity Later In Life Among Children'

The researchers explain that obesity can be inherited and GWASs (genome-wide association studies) have started to reveal the molecular roots of heritability by identifying SNPs (single-nucleotide polymorphisms) which are associated with higher BMIs (body mass indexes).

Daniel W. Belsky, Ph.D., and team wrote:

The researchers gathered data on 1,037 New Zealanders who were members of the Dunedin Multidisciplinary Health and Development Study. 52% of them were males. They were all born between April 1972 and March 1973. They were assessed every few years up to the age of 38 years.

Participants with higher GRSs (genetic risk scores) had greater BMIs between ages 3 to 38 for every age assessed. Children identified with a high genetic risk were found to have a 1.61 to 2.41 times higher chance of becoming obese during their teens to late thirties , and 1.90 times more likely to become chronically obese across over three assessments compared to the other kids.

Children at higher genetic risk experienced more severe adiposity rebound than other kids. Adiposity rebound means gaining fat after losing weight - piling the pounds back on. Adiposity rebound also appeared to occur earlier on among kids at higher genetic risk.

Children of normal weight at higher genetic risk, whose parents were overweight, were found to have faster growth and a greater chance of becoming obese.

The authors explained that genetic score risk contributed "independent and additive information" to predicting how much children might grow and/or become obese later on in life - this data went beyond family history data.

In the same journal, the authors concluded:

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Genetic Risk Scores And Obesity Later In Life Among Children