New testing could help spot genetic disorders

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

Blood Test May Spot Genetic Disease in Fetuses

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

Racial and ethnic disparities in awareness of heart disease risk in women

Public release date: 6-Jun-2012 [ | E-mail | Share ]

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, June 6, 2012Awareness of the risks of heart disease and signs of a heart attack vary greatly among women of different racial and ethnic groups and ages. New data that clearly identify these disparities in heart health awareness are presented in an article in Journal of Women's Health, a peer-reviewed publication from Mary Ann Liebert, Inc., publishers. The article is available free on the Journal of Women's Health website at http://www.liebertpub.com/jwh.

In a pooled analysis from two American Heart Association surveys, Black and Hispanic women were 66% less likely than white women to be aware that heart disease is the leading cause of death in women, report Heidi Mochari-Greenberger, MPH, PhD, Lori Mosca, MD, MPH, PhD, New York-Presbyterian Hospital/Columbia University Medical Center (New York, NY), and Kerri Miller, MA, Harris Interactive (Amherst, NH). Women younger than 55 years of age were also less well-informed about heart disease risk. Overall among women, awareness was low of the most common signs of heart attack, which tend to differ from those in men, according to the article "Racial/Ethnic and Age Differences in Women's Awareness of Heart Disease."

"Clearly, education that is targeted to racial/ethnic minority and younger women about heart disease risk is needed, as well as education of all women about the signs and symptoms of a heart attack," says Susan G. Kornstein, MD, Editor-in-Chief of Journal of Women's Health, Executive Director of the Virginia Commonwealth University Institute for Women's Health (Richmond, VA), and President of the Academy of Women's Health.

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About the Journal

Journal of Women's Health, published monthly, is a core multidisciplinary journal dedicated to the diseases and conditions that hold greater risk for or are more prevalent among women, as well as diseases that present differently in women. The Journal covers the latest advances and clinical applications of new diagnostic procedures and therapeutic protocols for the prevention and management of women's healthcare issues. Tables of content and a sample issue may be viewed on the Journal of Women's Health website at http://www.liebertpub.com/jwh. Journal of Women's Health is the Official Journal of the Academy of Women's Health.

About the Society

Academy of Women's Health (http://academyofwomenshealth.org) is an interdisciplinary, international association of physicians, nurses, and other health professionals who work across the broad field of women's health, providing its members with up-to-date advances and options in clinical care that will enable the best outcomes for their women patients. The Academy's focus includes the dissemination of translational research and evidence-based practices for disease prevention, diagnosis, and treatment for women across the lifespan.

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Racial and ethnic disparities in awareness of heart disease risk in women

P. G. Wodehouse, futurist

The name P.G. Wodehouse normally does not spring to mind when talking about futurists. Jules Verne, Arthur C. Clarke and Alvin Toffler certainly, but Pelham Grenville quite definitely not!

Wodehouse is someone one would associate with Bertie Wooster and the inimitable dolichocephalic, fish-eating Jeeves. Some may conjure up visions of the muddle-headed Lord Emsworth and his magnificent beast the Empress of Blandings.

But the die-hard Wodehouse fan will also tell you about Rupert Psmith and his other schoolboy stories. Though often ignored and somewhat hard to find, many unusual nuggets lurk in these innocuous tales.

It is to one of these that I would draw attention. Titled An International Affair, it was published in The Captain in 1905, and can be found in the Project Gutenberg free eBooks collection called The Politeness of Princess and Other Stories'.

The story is rather prescient it reads like the classic tale of the neighborhood mom-and-pop store facing the giant retailer. You could easily substitute the latter today with Walmart or Carrefour.

Oliver Ring, the American owner of Ring's Come-one Come-all Up-to-date Stores, happens to be passing through the lazy English countryside town of Wrykyn, home to the boy's school bearing the same name. The shop windows in Wrykyn resemble those in every other country town in England, having no initiative and none of that quality that would arrest the pedestrian's progress.

In America, Mr Ring reflected, they did these things better, and then it dawned upon him that this was the perfect place for setting up one of his mega stores.

We are told that of Mr Ring's Come-one Come-all Up-to-date Stores are well known all over the world, with offices in Broadway, New York and others in Chicago, St. Louis and St. Paul within America. Overseas offices exist in London, Paris and Berlin which basically amounts to saying everywhere in the world.

In Mr. Wodehouse's words, The peculiar advantage of Ring's Stores is that you can get anything you happen to want there, from a motor to a macaroon, and rather cheaper than you could get it anywhere else.

Of course, what he was describing was the early twentieth century, when one can only guess where these multitudes of products are produced. Not China, perhaps.

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P. G. Wodehouse, futurist

The Curious Life Of Futurist Author Ray Bradbury

Ray Bradbury has died at the age of 91. He wrote such classics as The Martian Chronicles and Fahrenheit 451. Futuristic tales from a man who never used a computer, or even drove a car.

Copyright 2012 National Public Radio. For personal, noncommercial use only. See Terms of Use. For other uses, prior permission required.

DAVID GREENE, HOST:

Some sad news this morning, the world has lost a literary giant. Author Ray Bradbury died last night, after a long illness. He was 91 years old. He wrote such classics as "The Martian Chronicles" and "Fahrenheit 451" - futuristic tales from a man who never used a computer or even drove a car. NPR's Arnie Seipel has more on Bradbury and his curious life.

ARNIE SEIPEL, BYLINE: Ray Bradbury grew up during the Great Depression. He said it was a time when people couldn't imagine the future and Bradbury's active imagination made him stand out. He once told WHYY's FRESH AIR about exaggerating basic childhood fears, like monsters at the top of the stairs.

RAY BRADBURY: As soon as I looked up, there it was, and it was horrible. And I would scream and fall back down the stairs. And my mother and father would get up and sigh and say, oh my God, here we go again.

SEIPEL: He dove into books as a child. Wild tales from authors Jules VerneBradbury dove into books as a child. Wild tales from authors Jules Verne and H.G. Wells captivated Bradbury - and made him dream of becoming a great author. So he started writing, churning out a short story every week during his teens. After his family moved to Southern California, he would escape to the basement of the UCLA library. There, he'd focus on his craft.

BRADBURY: For 10 cents a half-hour you could rent a typewriter. And I thought, my gosh, this is terrific! I can be here for a couple hours a day. It'll cost me 30, 40 cents, and get my work done.

SEIPEL: Bradbury made his mark in the literary world with "The Martian Chronicles," a collection of short stories released in 1950. During the height of the Red Scare, he set off a warning flare about censorship with his signature work, "Fahrenheit 451" - and he did so in a controversial new magazine: Playboy. The story was later printed as a novel, and in 1966 director Francois Truffaut introduced movie audiences to this bizarre society Bradbury created: one in which firemen burned books to keep the masses completely ignorant but couldn't extinguish their curiosity.

(SOUNDBITE OF FILM, "FAHRENHEIT 451")

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The Curious Life Of Futurist Author Ray Bradbury

Freedom House Blasts Hungary, Ukraine for Poor Democracy

Washington-based Freedom House think tank warned on Wednesday of rising antidemocratic tendencies in Hungary and Ukraine that have the potential to take root elsewhere in the region.

Negative developments in Hungary and Ukraine are at the forefront of an antidemocratic trend in Central and Eastern Europe that raises serious questions about the durability of the European Unions young democracies, Freedom House said in the Nations in Transit 2012 report.

According to the report, Ukraine, which saw a brief democratic opening after the Orange Revolution in 2004, has suffered significant decline in an alarmingly short period of time.

Under the Yanukovych government, Ukraines Nations in Transit ratings worsened in five categories year on year, with a steep decline in judicial framework and independence and an overall democracy score that is rapidly approaching its preOrange Revolution level, the report said.

Freedom House warned that the negative trend in Ukraine, along with a steep decline of the overall democracy score in a number of EU aspirants in the Balkans, may jeopardize the prospects for widening the circle of democratic states in Europe.

The details of the report will be released later on Wednesday at the Legatum Institute in London, and on June 7 in Brussels in cooperation with the German Marshall Fund.

Freedom House is an independent watchdog organization that supports democratic change, monitors the status of freedom around the world, and advocates for democracy and human rights.

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Freedom House Blasts Hungary, Ukraine for Poor Democracy

Salem student wins Freedom Festival Speech contest

SALEM -- Salem Hills High senior Emily Hedelius won first place in the Freedom Festival Speech contest sponsored by the Freedom Festival. Her speech, entitled "Called to Service," pays homage to sacrifices and acts of service that many early revolutionists made for our country. This service, she says, is required to repair the apathetic and entitled nature of many of America's youth.

With first place, Hedelius also won a prize of a $750 scholarship and will give her speech in front of an estimated 3,000 people at the Patriotic Fireside at UVU's UCCU Center at 7 p.m. July 1.

Hedelius first posted her speech on YouTube according to contest rules. Then on May 5, the six finalists performed their speeches in front of a panel of judges. After some time deliberating, Hedelius was informed that she ranked in first place.

"The United States was founded on principles of selfless service for the greater good, even if it meant that one's own life was in jeopardy," said Hedelius in the award-winning speech.

One of the heroes she spoke of was Sgt. Richard Kirkland, who was a Confederate soldier during the Civil War. After a battle on Marye's Heights, there were 8,000 wounded Union soldiers suffering on the battlefield. Kirkland requested permission to help the dying men, and though he was denied, he bravely chose to go anyway at the risk of his own life. He later earned the nickname, "The Angel of Marye's Heights" by both the Confederate and Union soldiers.

"I picked the topic, because I've always loved the story of Sgt. Richard Kirkland, and I saw the quote by Abraham Lincoln in Mr. Welton's classroom. I took those two and wrote a speech about it," Hedelius said.

Hedelius's speech also highlighted the efforts of Clara Barton, the wartime nurse who founded the American Red Cross in the 1800s and Betsy Ross, who sewed the first American flag in 1776 despite personal struggles that could have prevented her from serving. These acts of service for the nation impacted Hedelius greatly.

"Since I have learned about how much people have sacrificed for our flag, it troubles me to see how people now are so unwilling to stand and say the Pledge of Allegiance," she said.

Hedelius goes on to express her anguish about the resistance against the recent bill to have the Pledge recited every day in Utah schools. Hedelius was shocked at the response that people might feel offended by the Pledge; she sees it as an opportunity to restore patriotism among the youth, many of whom she claims had fallen into a "pit of ingratitude and apathy."

Service, Hedelius believes, is the best way to for American citizens to "repair damages" and "regain grounds lost from apathy."

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Salem student wins Freedom Festival Speech contest

Eugenics compensation bill passed by house

RALEIGH, NC (AP) -- North Carolina moved closer to becoming the first U.S. state to compensate victims of a forced sterilization program when the state House approved legislation Tuesday to compensate living survivors $50,000 each.

North Carolina laws enforced from 1929 to 1974 allowed more than 7,600 people to undergo surgeries that left them unable to reproduce. Some chose to be sterilized as a form of birth control. Others were ordered to undergo surgeries by a state panel that found them mentally feeble, promiscuous, too poor to raise children, or otherwise inferior for parenthood. Up to 2,000 may be alive. The state has verified 132 victims, of whom 118 are still living.

House Speaker Thom Tillis, R-Mecklenburg, took the unusual step of giving up control of the legislative debate to argue in favor of the legislation. He said as a conservative he feels it's necessary to compensate people who were harmed by the power of the state.

"We had elected officials and leaders who had the audacity to know what the great race was," Tillis said. "There are people living today, all around this community, who have had this done to them and we have a chance to put it at rest."

The bill approved by the House 86-31 would set aside $11 million to pay $50,000 to victims of forced sterilization who were alive when the current legislative session opened last month.

"We owe it to them. Not in a legal sense, but a moral sense," said House Majority Leader Paul Stam, R-Wake. "This was a sad program that lasted for several decades and has as its genesis a philosophy that is very alien to the American spirit."

The legislation was resisted by a handful of lawmakers who said compensation now meant taking from today's taxpayers to try to rectify the deeds of their ancestors.

"We're punishing people who had nothing to do with this," said Rep. G.L. Pridgen, R-Robeson.

Rep. John Blust, R-Guilford, tried and failed to reduce the compensation from $50,000 to $20,000, citing another tight state budget this year more than four years after the recession began.

"You know what kind of situation our budget is in," Blust said. "This still is enough money that the state says you were wronged."

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Eugenics compensation bill passed by house

Eugenics bill passed by House

Published:Wednesday, June 6, 2012

Updated:Wednesday, June 6, 2012 12:06

According to a news release by the North Carolina Department of Administration, the Eugenics compensation bill was passed in the North Carolina House of Representatives yesterday evening.

The bill includes Gov. Bev Perdues call to pay a $50,000 lump sum compensation to living victims, as well as funding the continuation of the N.C. Justice for Sterilization Victims Foundation, which provides services to victims.

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Eugenics bill passed by House

FIABCI award for Setia Eco Gardens

(From left) Tan Sri Liew Kee Sin, Alexander Romanenko, Laszlo Gonczi and Vyacheslav Semenenko.

ONCE again, property developer SP Setia Bhd Group has added another International Real Estate Federation prize under its belt.

At the FIABCI Prix d'Excellence Awards 2012 held in St Petersburg in Russia recently, the group's Eco Greens Gallery in Setia Eco Gardens, Johor, emerged the winner in the Specialised Project (Purpose-Built) category.

SP Setia has clinched the international recognition four times, making it the only developer in Malaysia to have achieved such a feat.

A total of 14 developers from seven countries took part in the event this year.

Previous FIABCI awards went to the group's Setia Eco Park in Shah Alam for Best Master Plan (2007) and Best Residential (Low-Rise) Development (2011) and Setia Eco Gardens for Best Master Plan (2009).

As for the Setia Eco Gardens, it is the second FIABCI award for the eco-themed development in Johor.

SP Setia chief executive officer and president Tan Sri Liew Kee Sin said the award has marked another milestone for Setia Eco Gardens, which has shown its commitment to sustain an eco-themed development.

"Located in Iskandar Malaysia, Setia Eco Gardens is a sustainable residential development and the Eco Greens Gallery is known as a landmark building with a leisure park and green wall," said Liew.

The gallery, built on a green lung spreading 11 hectares, provide residents of Setia Eco Gardens the luxury of living amid a healthy natural environment.

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FIABCI award for Setia Eco Gardens

Beaches take a hammering

Big seas have snatched tonnes of sand from Illawarra beaches and dramatically reshaped parts of the region's coastline.

Newly eroded sand cliffs line the beaches at Woonona, Towradgi and Wollongong City - the result of huge waves and a king tide measuring 2.2m.

Authorities strung safety tape over the walkways to Towradgi Beach yesterday morning to stop the unsuspecting meeting an unannounced 1.5m vertical drop carved into the other end overnight.

At Austinmer, the tide inundated the beach car park, but stopped short of crossing Lawrence Hargrave Dr as some had speculated.

Jackie Metzner, office manager at Lawrence Hargrave Dr trading securities business Tibra Capital, helped safeguard the building with sandbags on Tuesday afternoon as the power supply surged on and off.

"Everyone was on tenterhooks - we had never seen the swells the way they were," Ms Metzner said. "The water was still lapping up against the [beach side] footpath until about midday today.

"We're glad [the sandbags] weren't tested."

Woonona Beach remained inundated yesterday morning.

Resident Michael Barnett believes inappropriate vegetation planted to prevent sand blowing onto the road has made the beach particularly vulnerable to erosion.

The plant, he said, dropped leaf litter and nourished itself, growing in height and creeping towards the water line.

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Beaches take a hammering

How could I NOT post this Venus transit picture? | Bad Astronomy

I wasnt going to post another Venus Transit shot, because my mousing arm still hurts from putting together the gallery for this morning.

But holy geez, I saw this, and cmon!

I mean, seriously. Wow. [Click to cythereanate.]

This image of Venus as it entered the Suns disk was taken by the NASA/JAXA (Japanese space agency) spacecraft Hinode on June 5. The detail is breathtaking. The ring around Venus is due to scattering and refraction light from the Sun passes through the upper part of the Venusian atmosphere and gets bent toward us. You can also see some texture on the Suns surface (really packets of hot gas rising and cool gas sinking) and some nice prominences off the Suns limb material lifted against the Suns massive gravity by its equally ridiculously strong magnetic field.

Thats a whole planet there, folks, nearly the same size as Earth, roughly 40 million kilometers (25 million miles) from Earth, back lit by a star 110 million km (70 million miles) farther away yet and well over 100 times bigger than Venus!

And we knew about it, predicted it, aimed our machines at it, and observed it so we can learn more and see more beauty. The things we humans do when inspired by the Universe. Amazing.

Image credit: JAXA/NASA/Lockheed Martin

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How could I NOT post this Venus transit picture? | Bad Astronomy

Sic Transit, Glorious | Bad Astronomy

This is what Ive been waiting for: the stunning video views of NASAs Solar Dynamics Observatory of the Venus transit. Sit down, set this video to high-def, tune out everything else for 3 minutes 7 seconds, and soak in the clockwork glory of our solar system.

OK, you can breathe now. NASA has provided high-resolution versions for download, too.

SDO orbits the Earth about 40,000 kilometers (24,000 miles) above the surface of the Earth, with a nearly-continuous view of the Sun so it had the best seat in the Universe for the transit. One of its most important tasks is to observe the Sun in ultraviolet, where our stars magnetic activity is most obvious. The views in the video show the Sun different parts of the ultraviolet spectrum, colored to make them easier to see: magenta is at 1700 Angstroms (a unit of length astronomers like; 100 million Angstroms would comfortably fit across your fingernail), red is 304 Angstroms, and gold is 171 Angstroms. The orange segment is from the light we can see, about 3000 7000 Angstroms.

The Suns ethereal outer atmosphere, its corona, glows at at 171 and 304 Angstroms. In visible light the transit lasted about 7 hours, but in the UV it took longer since the silhouette of Venus can be seen against the softly luminous corona.

SDO was commanded to take images faster than usual, to provide as much coverage of the transit as possible, so the passage of the planet across the Sun is smooth and I know, but it fits other-worldly.

And I cant help but think about a sad milestone today: one of Americas one of the worlds greatest writers, Ray Bradbury, has died. Among his many works was "The Long Rain", a short story which took place on Venus. It had a huge impact on me when I first read it as a kid, and it still makes me think about human nature, space exploration, and what happens when we mix the two.

Bradbury was more than a writer, he was a poet, and his works inspired generations of people to look beyond the borders of our world while still considering our humanity. We all must go someday, and for him to do so on the eve of the last transit of Venus to be seen for over a century is, somehow, fitting.

Ray Bradbury knew that no matter where we are, whether we are looking down into the water of another world, or looking up into the skies, what we are always seeing is a reflection of ourselves.

Sic transit gloria mundi.

Credit: NASA/SDO

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Sic Transit, Glorious | Bad Astronomy

The June 2012 Transit of Venus Gallery | Bad Astronomy

Phil Plait, the creator of Bad Astronomy, is an astronomer, lecturer, and author. After ten years working on Hubble Space Telescope and six more working on astronomy education, he struck out on his own as a writer. He's written two books, dozens of magazine articles, and 12 bazillion blog articles. He is a skeptic and fights the abuse of science, but his true love is praising the wonders of real science.

The original BA site (with the Moon Hoax debunking, movie reviews, and all that) can be found here.

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The June 2012 Transit of Venus Gallery | Bad Astronomy