Thursday, March 11, 2010

“Personal look at genes locates disease causes - Washington Post” plus 3 more

“Personal look at genes locates disease causes - Washington Post” plus 3 more

Personal look at genes locates disease causes - Washington Post

Posted: 10 Mar 2010 04:30 PM PST

And a separate study of an individual genome located the cause of another inherited disease.

The blueprint for life, called DNA, contains about 22,000 genes, and researchers calculated the number of changes by analyzing the genes of a mother, father, and their son and daughter.

The result, reported in Thursday's online edition of the journal Science, found that the children had about 30 mutations from each parent for a total of 60 changes passed along to the offspring.

Scientists previously had thought a child had about 75 mutated genes from the parents.

The rate of mutations probably will vary somewhat, depending on the age of the parents, said co-author Lynn B. Jorde, chairman of the Department of Human Genetics at the University of Utah School of Medicine.

Most mutations are thought to be unimportant, but the rate at which things change is considered critical, helping explain the gradual development of changes.

Genomic studies can help researchers find ways to identify individual genes or mutations that can lead to inherited disease.

Jorde and the senior author, David J. Galas, of the Institute of Systems Biology in Seattle studied a family in which the parents had no genetic abnormalities, but each carried recessive genes that resulted in their son and daughter being born with two extremely rare conditions - Miller's syndrome and primary ciliary dyskinesia.

Miller's syndrome, which causes facial and limb malformations, has been diagnosed in only two families in the world. PCD is a condition in which the tiny hair-like structures that are supposed to move mucus out of airways in the lungs do not function. The chances of having PCD are estimated at one in 10,000.

Jorde said the odds of someone having both PCD and Miller's syndrome are less than one in 10 billion.

"We were very pleased and a little surprised at how much additional information can come from examining the full genomes of the same family," Galas said in a statement.

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Institute for Systems Biology uses Complete Genomics' genome ... - Eureka! Science News

Posted: 10 Mar 2010 02:42 PM PST

Complete Genomics Inc., a third-generation human genome sequencing company, today announced that the Institute for Systems Biology (ISB) employed Complete Genomics' human genome sequencing service to sequence a family quartet to determine the depth of genetic information possible in analyzing a full family's sequence, and to verify the gene responsible for Miller syndrome, a rare craniofacial disorder.Results from this collaboration will be published online later today in the journal Science; the manuscript is titled "Analysis of Genetic Inheritance in a Family Quartet by Whole Genome Sequencing." "We are convinced that this new kind of analysis, family sequencing, will be a remarkably powerful scientific and medical tool in the future. ISB was delighted to work closely with the group at Complete Genomics to generate the data that enabled us to complete this study," said David Galas, Professor and Senior Vice President of ISB.

ISB used Complete Genomics' service to sequence the genomes of a four-member nuclear family in which the two children suffer from Miller syndrome and ciliary dyskinesia, a lung disorder similar to cystic fibrosis, but neither parent is affected. The goal of this study was to identify rare genetic variations that could be responsible for Miller syndrome, and to estimate the intergenerational mutation rate.

Complete Genomics sequenced the four genomes to a depth of 51x to 88x, and 85-92% of the bases in each genome were called. A comparative analysis of the four genomes yielded four genes consistent with recessive inheritance of rare variations. One of these genes, DHODH, was concurrently identified as a cause of Miller syndrome [Nat Genet. 2010 Jan;42(1):13-4]. Mutations in a second gene, DNAH5, have previously been shown to cause primary ciliary dyskinesia.

"When we established Complete Genomics, our goal was to provide large-scale complete human genome sequencing as a service that would enable our customers to make medically-relevant discoveries. We are delighted that ISB is already making breakthroughs of that caliber from its first study using our service," said Dr. Clifford Reid, chairman, president and CEO of Complete Genomics. "This is the type of positive disruptive influence that we want our technology to have on medical research."

Source: Complete Genomics

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Exposure to BPA May Cause Permanent Fertility Defects, Yale ... - WebWire

Posted: 09 Mar 2010 06:44 AM PST

New Haven, Conn. — Researchers at Yale School of Medicine have discovered that exposure during pregnancy to Bisphenol A (BPA), a common component of plastics, causes permanent abnormalities in the uterus of offspring, including alteration in their DNA. The findings were reported in the March issue of Journal of the Federation of American Societies for Experimental Biology (FASEB J.).

Led by Hugh S. Taylor, M.D., professor in the Department of Obstetrics, Gynecology & Reproductive Sciences at Yale, the study is the first to show that BPA exposure permanently affects sensitivity to estrogen.

Taylor and his team used two groups of mice, one exposed to BPA as a fetus during pregnancy and another exposed to a placebo. They examined gene expression and the amount of DNA modification in the uterus. They found that the mice exposed to BPA as a fetus had an exaggerated response to estrogens as adults, long after the exposure to BPA. The genes were permanently programmed to respond excessively to estrogen.
"The DNA in the uterus was modified by loss of methyl groups so that it responded abnormally in adulthood," said Taylor. "The gene expression was permanently epigenetically altered and the uterus became hyper-responsive to estrogens."

Taylor said that exposure to BPA as a fetus is carried throughout adulthood. "What our mothers were exposed to in pregnancy may influence the rest of our lives. We need to better identify the effect of environmental contaminants on not just crude measures such as birth defects, but also their effect in causing more subtle developmental errors."

Citation: The FASEB Journal (Journal of the Federation of American Societies for Experimental Biology) Vol. 24, Issue 3 (March 2010)

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Darwin dismissed - Observer-Reporter

Posted: 08 Mar 2010 12:33 AM PST

"I thought she was going to have a coronary," Mule said of her daughter, who is now 16 and taking college courses in Houston. "She's like, 'This is not true!"'

Christian-based materials dominate a growing home-school education market that encompasses more than 1.5 million students in the U.S. And for most home-school parents, a Bible-based version of the Earth's creation is exactly what they want. Federal statistics from 2007 show 83 percent of home-schooling parents want to give their children "religious or moral instruction."

"The majority of home-schoolers self-identify as evangelical Christians," said Ian Slatter, a spokesman for the Home School Legal Defense Association. "Most home-schoolers will definitely have a sort of creationist component to their home-school program."

Those who don't, however, often feel isolated and frustrated from trying to find a textbook that fits their beliefs.

Two of the best-selling biology textbooks stack the deck against evolution, said some science educators who reviewed sections of the books at the request of the Associated Press.

"I feel fairly strongly about this. These books are promulgating lies to kids," said Jerry Coyne, an ecology and evolution professor at the University of Chicago.

The textbook publishers defend their books as well-rounded lessons on evolution and its shortcomings. One of the books doesn't attempt to mask disdain for Darwin and evolutionary science.

"Those who do not believe that the Bible is the inspired, inerrant Word of God will find many points in this book puzzling," says the introduction to "Biology: Third Edition" from Bob Jones University Press. "This book was not written for them."

The textbook delivers a religious ultimatum to young readers and parents, warning in its "History of Life" chapter that a "Christian worldview ... is the only correct view of reality; anyone who rejects it will not only fail to reach heaven but also fail to see the world as it truly is."

When the AP asked about that passage, university spokesman Brian Scoles said the sentence made it into the book because of an editing error and will be removed from future editions.

The size of the business of home-school texts isn't clear because the textbook industry is fragmented and privately held publishers don't give out sales numbers. Slatter said home-school material sales reach about $1 billion annually in the U.S.

Publishers are well aware of the market, said Jay Wile, a former chemistry professor in Indianapolis who helped launch the Apologia curriculum in the early 1990s.

"If I'm planning to write a curriculum, and I want to write it in a way that will appeal to home-schoolers, I'm going to at least find out what my demographic is," Wile said.

In Kentucky, Lexington home-schooler Mia Perry remembers feeling disheartened while flipping through a home-school curriculum catalog and finding so many religious-themed textbooks.

"We're not religious home-schoolers, and there's somewhat of a feeling of being outnumbered," said Perry, who has home-schooled three of her four children after removing her oldest child from a public school because of a health condition.

Perry said she cobbled together her own curriculum after some mainstream publishers told her they would not sell directly to home-schooling parents.

Wendy Womack, another Lexington home-school mother, said the only scientifically credible curriculum she's found is from the Maryland-based Calvert School, which has been selling study-at-home materials for more than 100 years.

Apologia and Bob Jones University Press say their science books sell well. Apologia's "Exploring Creation" biology textbook retails for $65, while Bob Jones' "Biology" Third Edition lists at $52.

Coyne and Virginia Tech biology professor Duncan Porter reviewed excerpts from the Apologia and Bob Jones biology textbooks, which are equivalent to ninth- and 10th-grade biology lessons. Porter said he would give the books an F.

"If this is the way kids are home-schooled, then they're being shortchanged, both rationally and in terms of biology," Coyne said. He argued that the books may steer students away from careers in biology or the study of the history of the earth.

Wile countered that Coyne "feels compelled to lie in order to prop up a failing hypothesis (evolution). We definitely do not lie to the students. We tell them the facts that people like Dr. Coyne would prefer to cover up."

Adam Brown's parents say their 16-year-old son's belief in the Bible's creation story isn't deterring him from pursuing a career in marine biology. His parents, Ken and Polly Brown, taught him at their Cedar Grove, Ind., home using the Apologia curriculum and other science texts.

Polly Brown said her son would gladly take college courses that include evolution, and he'll be able to provide the expected answers even though he disagrees.

"He probably knows it better than the kids who have been taught evolution all through public school," Polly Brown said. "But that is in order for him to understand both sides of that argument because he will face it throughout his higher education."

------

Apologia Educational Ministries: www.apologia.com

Bob Jones University Press: http://www.bjupress.com/page/HS+Home

Jerry Coyne's blog, "Why Evolution is True": http://whyevolutionistrue.wordpress.com/

©2010 Associated Press. All rights reserved. This material may not be published, broadcast, rewritten, or redistributed.


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