ScienceDaily (May 31, 2012) When flies are made to lose a gene with links to Restless Legs Syndrome (RLS), they suffer the same sleep disturbances and restlessness that human patients do. The findings reported online on May 31 in Current Biology, a Cell Press publication, strongly suggest a genetic basis for RLS, a condition in which patients complain of an irresistible urge to move that gets worse as they try to rest.

"Although widely prevalent, RLS is a disorder whose pathophysiological basis remains very poorly understood," said Subhabrata Sanyal of Emory University School of Medicine. "The major significance of our study is to highlight the fact that there might be a genetic basis for RLS. Understanding the function of these genes also helps to understand and diagnose the disease and may offer more focused therapeutic options that are currently limited to very general approaches."

Sanyal's team recognized that a number of genome-wide association studies in humans had suggested connections between RLS and variation in a single gene (BTBD9).

"BTBD9 function or its relationship to RLS and sleep were a complete mystery," Sanyal said.

His team realized that there might be a way to shed some light on that mystery in fruit flies. Flies have a single, highly conserved version of the human BTBD9. They decided to test whether the gene that had turned up in those human studies would have any effect on sleep in the insects. In fact, flies need sleep just like humans do, and their sleep patterns are influenced by the same kinds of brain chemistry.

The researchers now report that flies lacking their version of the RLS-associated gene do lose sleep as they move more. When those flies were treated with a drug used for RLS, they showed improvements in their sleep.

The studies also yielded evidence about how the RLS gene works by controlling dopamine levels in the brain as well as iron balance in cells. Sanyal said his team will continue to explore other RLS-related genes that have been identified in human studies in search of more details of their interaction and function.

"Our results support the idea that genetic regulation of dopamine and iron metabolism constitute the core pathophysiology of at least some forms of RLS," the researchers write.

More broadly, they say, the study emphasizes the utility of simple animals such as fruit flies in unraveling the genetics of sleep and sleep disorders.

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Flies with restless legs syndrome point to a genetic cause

As the cost of mapping out personal genomes goes down, the more potentially lifesaving but sensitive genetic data is available. Although the day when its commonplace to have that personal information in a medical record may be several years away, it is coming. And health insurers and hospitals need to think about how that information will be processed and transmitted in electronic medical records.

The Air Force Medical Service is collaborating with personalized medicine research center, the Coriell Institute for Medical Research in Camden, New Jersey in a study to review and evaluate medical evidence assess, among other things, best practices for using genetic information in EMRs, according to Coriell President Dr. Michael Christman. It will look at how the data should be displayed and how it should be shared with physicians.

About 2,000 active duty medical service personnel are expected to participate in the six-year Patient-Centered Precision Care Research program longitudinal study. It has already begun the recruitment process. Johns Hopkins University Applied Physics Laboratory will also offer research and program management support for the study.

The institute is working on a similar study with Ohio State University Medical Center.

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Personalized medicine study using genetic data in EMRs signs up Air Force

30-05-2012 10:32 Nicolas H. Zech, Congress President Where to next for PGD? From polar body to blastocyst -- the evolving genome Dear Colleagues! On behalf of the Preimplantation Genetic Diagnosis International Society (PGDIS) we take great pleasure in inviting you to our biannually held 11th International Conference in Bregenz, Austria. The PGD Conference will address a much wider range of topics than PGD, as the recent developments in related areas may soon move PGD from a research tool to the basic procedure in reproductive medicine and genetic practices. First of all, the recent application of microarray technology and next generation sequencing may clearly improve the accuracy of PGD for genetic and chromosomal disorders, so array-CGH, SNP arrays, genome wide analysis and next generation sequencing for single cell analysis will be one of the major topics of the Conference. In addition some related theoretical issues, such as molecular aspects of meiosis and cell fate in the preimplantation embryo will be also addressed. On the other hand, because of increasing importance of clinical aspects of PGD, a number of Workshops will be organized on advance topics in clinical PGD, as well as a few debates on controversial issues in PGD, such as the optimal stage for performing biopsy procedures and reproductive outcome of preimplantation aneuploidy testing, prior to and after the application of 24-chromosome analysis, currently performed in a few dozens of thousands of cycles. As PGD is still ...

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11th International Conference on Preimplantation Genetics Diagnosis Welcome remarks Nicolas H. Zech - Video

Public release date: 31-May-2012 [ | E-mail | Share ]

Contact: Erin Tornatore erin.tornatore@childrens.harvard.edu 617-919-3110 Children's Hospital Boston

Boston, Mass. Using advanced technologies for rapidly sequencing and analyzing DNA from clinical and pathologic samples, a multidisciplinary research team consisting of geneticists, pathologists and surgeons at Boston Children's Hospital has identified the genetic basis for CLOVES syndrome, a rare congenital malformation and overgrowth disorder.

The discovery raises the hope that, for the first time, it will be possible to develop targeted medical treatments capable of delaying, reversing or possibly preventing CLOVES's debilitating consequences. Importantly, it also demonstrates the potential of advanced DNA sequencing technologies for identifying the underlying molecular roots of malformation disorders that are genetic but not hereditary.

The teamled by Matthew Warman, MD, director of the Orthopedic Research Laboratories at Boston Children's, and Kyle Kurek, MD, of the hospital's department of Pathology, and members of the hospital's Vascular Anomalies Centerreported the discovery today in the online edition of the American Journal of Human Genetics.

Some 90 children worldwide have been diagnosed with CLOVES (which stands for Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevis, Spinal/skeletal anomalies/scoliosis) since 2006, when the condition was first characterized by Boston Children's Ahmad Alomari, MD, and investigators at the National Institutes of Health. Alomari co-directs the Vascular Anomalies Center with Steven Fishman, MD, and John Mulliken, MD; all three are authors on the paper.

The clinical features of CLOVESin general a combination of fatty growths in the torso, vascular and skin anomalies, overgrowth in or deformities of limbs or extremities and spinal problems such as scoliosiscan vary greatly from child to child. Presently there is no cure for CLOVES, only surgical treatments aimed at alleviating symptoms or managing the syndrome's progression.

Until now, the exact nature of the genetic defect or defects that cause CLOVES has remained a mystery.

"CLOVES is dynamic, presenting itself in new ways all the time, even within the same patient," said Fishman, who with Alomari and others in the Vascular Anomalies Center has treated numerous children with CLOVES. "With this discovery we are optimistic that it will now be possible to develop treatments that take less of a shotgun approach and which could prevent the syndrome's progression."

The researchers started from the assumption that CLOVES is genetic but not inherited, because the syndrome always appears sporadically and is never passed from affected parents to their children; nor do the parents of affected children show signs of the syndrome.

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Researchers at Boston Children's Hospital identify a genetic cause for CLOVES syndrome

May 31, 2012

Connie K. Ho for RedOrbit.com

Nature versus nurture has always been a highly debated question in the sciences. This discussion has been seen in a research project focused on smoking, where scientists determined that genetics can play a role in how patients respond to treatments. Researchers from the Washington University School of Medicine found that genes can show how smokers will respond to medication to quit the habit; they found that gene variations that make it difficult to stop smoking will also make smokers respond to nicotine-replacement therapy and treatments.

The study, published in a recent issue of the American Journal of Psychiatry, found that it could be possible to predict how patients respond to drug treatments for smoking cessation in the future based on the gene variations.

Smokers whose genetic makeup puts them at the greatest risk for heavy smoking, nicotine addiction and problems kicking the habit also appear to be the same people who respond most robustly to pharmacologic therapy for smoking cessation, explained senior investigator Dr. Laura Jean Bierut, a professor of psychiatry, in a prepared statement. Our research suggests that a persons genetic makeup can help us better predict who is most likely to respond to drug therapy so we can make sure those individuals are treated with medication in addition to counseling or other interventions.

In the experiment, the scientists looked at data from 5,000 smokers who were involved in community-based studies as well as another 1,000 smokers who participated in a project focused on clinical treatment. The researchers examined the connection between participants ability to quit smoking successfully and genetic variations that had been related to dependence on nicotine and a habit of obsessively smoking. They found an interesting set of results in regards to those who had high-risk genetic markers.

People with the high-risk genetic markers smoked an average of two years longer than those without these high-risk genes, and they were less likely to quit smoking without medication, noted first author Dr. Li-Shiun Chen, an assistant professor of psychiatry at Washington University, in the statement.

Individuals who showed high-risk genetic variants in the clinical trial were three times more likely to respond to drug therapies that were designed to help people quit smoking.

The same gene variants can predict a persons response to smoking-cessation medication, and those with the high-risk genes are more likely to respond to the medication, continued Chen in the statement.

Both Bierut and Chen believe the findings show that the genetic variations can help explain why smokers may be addicted to nicotine, as they studied the same genes that determined heavy response and an intense response to nicotine-dependence treatments.

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Success Of Quitting Smoking Hinges On Genetic Variations

WEDNESDAY, May 30 (HealthDay News) -- Advancements in human genetic research could lead to improved patient care, but safeguards are needed to protect against the misuse of people's genetic data, the American Heart Association says.

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Brave New World of Genetics Requires Safeguards, Experts Say

IntegenX has appointed David Smith to serve as its new COO. Smith most recently served as CFO of Thoratec, and previous to that was CFO at Chiron. He currently is chair of the audit committee and a director of OncoGenex Pharmaceuticals and previously was chair of the audit committee and a director of Perlegen Sciences.

Vermillion said this week that President and CEO Gail Page will be leaving the company by September and the firm has begun the process to find her successor. Page also has resigned her seat on the board of directors, and effective immediately Vermillion amended its bylaws to eliminate the vacant seat, reducing its board from seven to six members.

Genomic Health has appointed Richard Tompane as president of its new subsidiary InVitae, which will focus on developing next-generation-based sequencing diagnostics for genetic diseases. Tompane was previously president and CEO of Gemfire and has also served as an independent consultant.

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ACOG Committee Urges Caution for Genetic Testing to Assess Disease Risk

ScienceDaily (May 29, 2012) The discovery of a mummified Korean child with relatively preserved organs enabled an Israeli-South Korean scientific team to conduct a genetic analysis on a liver biopsy which revealed a unique hepatitis B virus (HBV) genotype C2 sequence common in Southeast Asia.

Additional analysis of the ancient HBV genomes may be used as a model to study the evolution of chronic hepatitis B and help understand the spread of the virus, possibly from Africa to East-Asia. It also may shed further light on the migratory pathway of hepatitis B in the Far East from China and Japan to Korea as well as to other regions in Asia and Australia where it is a major cause of cirrhosis and liver cancer.

The reconstruction of the ancient hepatitis B virus genetic code is the oldest full viral genome described in the scientific literature to date. It was reported in the May 21 edition of the scientific journal Hepathology by a research team from the Hebrew University of Jerusalem's Koret School of Veterinary Medicine, the Robert H. Smith Faculty of Agriculture, Food and Environment; the Hebrew University's Faculty of Medicine, the Hadassah Medical Center's Liver Unit; Dankook University and Seoul National University in South Korea.

Carbon 14 tests of the clothing of the mummy suggests that the boy lived around the 16th century during the Korean Joseon Dynasty. The viral DNA sequences recovered from the liver biopsy enabled the scientists to map the entire ancient hepatitis B viral genome.

Using modern-day molecular genetic techniques, the researchers compared the ancient DNA sequences with contemporary viral genomes disclosing distinct differences. The changes in the genetic code are believed to result from spontaneous mutations and possibly environmental pressures during the virus evolutionary process. Based on the observed mutations rates over time, the analysis suggests that the reconstructed mummy's hepatitis B virus DNA had its origin between 3,000 to 100,000 years ago.

The hepatitis B virus is transmitted through the contact with infected body fluids , i.e. from carrier mothers to their babies, through sexual contact and intravenous drug abuse. According to the World Health Organization, there are over 400 million carriers of the virus worldwide, predominantly in Africa, China and South Korea, where up to 15 percent of the population are cariers of the virus. In recent years, universal immunization of newborns against hepatitis B in Israel and in South Korea has lead to a massive decline in the incidence of infection.

The findings are the result of a collaborative effort between Dr. Gila Kahila Bar-Gal of the Hebrew University of Jerusalem's Koret School of Veterinary Medicine; Prof. Daniel Shouval of the Hadassah Medical Center's Liver Unit and Hebrew University; Dr. Myeung Ju Kim of Dankook University, Seok Ju Seon Memorial Museum; Dr. Dong Hoon Shin of Seoul National University, College of Medicine ; Prof Mark Spigelman of the Hebrew University's Dept. of Parasitology and Dr. Paul R. Grant of University College of London,Dept. of Virology.

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16th-century Korean mummy provides clue to hepatitis B virus genetic code

Statement Highlights:

EMBARGOED UNTIL 3 pm CT/4 pm ET, Tuesday, May 29, 2012

DALLAS, May 29, 2012 (GLOBE NEWSWIRE) -- Rapid advancements in genetic disease research necessitate innovative safeguards for patients, according to new American Heart Association policy recommendations published in Circulation, an American Heart Association journal.

Recent scientific progress includes the mapping of the entire human genetic code, or genome, which was completed in 2003, and new accelerated gene-sequencing techniques. These discoveries have led to cheaper, more readily available genetic tests, but regulations have lagged behind.

"The potential of the new technologies is incredible," said Euan A. Ashley, M.R.C.P., D.Phil., chair of the policy statement writing group and assistant professor of medicine in the Cardiovascular Division and director of the Center for Inherited Cardiovascular Disease at Stanford University School of Medicine, in Stanford, California.

"Genetic testing provides a tremendous opportunity but also a challenge in being responsible with that information," Ashley said. "If the information is available, how best do we use it to really improve care for individual patients?"

Focusing on heart and blood vessel diseases, the policy statement recommends:

In the modern era, gene sequencing simply involves observation of the natural world and not invention, therefore genes should not be patentable. The investigators cite a controversial case, now before the Supreme Court, of a company that patented the two primary genes -- BRCA1 and BRCA2 -- linked to an increased breast and ovarian cancer risk. The company has a monopoly on testing related to these genes and some believe this monopoly has reduced access to this test for women.

Establishing federal oversight of genetic tests

All genetic tests should be regulated for quality. The Food and Drug Administration (FDA) is well suited to this task because it has statutory authority, scientific expertise and experience in regulating genetic tests.

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Safeguards Against Misuse of Genetic Data Urged

27-05-2012 09:27 Special upload for webkinzgirle12 and turebeliever24 I DO NOT OWN THIS SHOW S05E14 Selective Breeding Lu treats a young patient with Bi-Polar disease which causes her to act hazardously violent. Her mother must decide whether to keep her or give her up to a mental institution. Meanwhile, Andy helps a woman have an invitro fertilization. She uses new technology to help the couple have a boy because of a genetic female-only disease in the family but later a web of lies and deceivements is revealed. Peter gets jealous when Kayla dates a man he volunteers for at a zoo.

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Strong Medicine ''Selective Breeding'' 1/2 - Video

Blood samples have been sent to the Rutgers repository, the largest university-based one in the world providing analyzing services for DNA, RNA, cell lines, and genetics, the university said.

Rutgers officials hope the research will help determine whether there is a genetic predisposition to mental-health disorders and why some soldiers are at risk for suicide and post-traumatic stress disorder while others are more resilient. The suicide rate of active-duty military increased 80 percent between 2004 and 2008, according to a study by the U.S. Army Public Health Command.

- Angelo Fichera

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Rutgers studies genetic link to military suicides

ScienceDaily (May 25, 2012) Chromosomal deletions in DNA often involve just one of two gene copies inherited from either parent. But scientists haven't known how a deletion in one gene from one parent, called a "hemizygous" deletion, can contribute to cancer.

A research team led by Stephen Elledge, a professor in the Department of Genetics at Harvard Medical School, and his post-doctoral fellow Nicole Solimini, has now provided an answer. The most common hemizygous deletions in cancer, their research shows, involve a variety of tumor suppressing genes called STOP genes (suppressors of tumorigenesis and proliferation) that scatter randomly throughout the genome, but that sometimes cluster in the same place on a chromosome. And these clusters, said Elledge, who is also a professor of medicine at Brigham and Women's Hospital, tend to be deleted as a group. "Eliminating the cluster gives a bigger bang for the deletion buck," he said.

This finding is especially interesting in light of the two-hit model of cancer formation, which holds that both copies of a recessive gene need to be inactivated to trigger a biological effect. Thus the loss of a single tumor suppressor copy should have little or no influence on tumor cell proliferation because the remaining copy located on the other chromosome is there to pick up the slack.

Elledge's research points to a different hypothesis, namely that STOP genes in a hemizygous deletion aren't recessive but are instead haploinsufficient, meaning that they depend on two copies to function normally. "If a tumor suppressor is haploinsufficient, then a single gene copy lacks the potency needed to fully restrain tumorigenesis," Elledge explained, who is also a Howard Hughes Medical Institute Investigator. "So by removing clusters of haploinsufficient genes all at once, the cancer cell immediately propels its growth forward without having to wait for the other copies to also be lost."

Angelika Amon, a professor of biology at the Massachusetts of Technology, said she's surprised by the findings. "We've known from a lot of human syndromes that haploinsufficiency is widespread in the development of complex multicellular organisms," she said. "But these data show it's also critical for individual cells and cell proliferation."

The results also offer a different take on the two-hit model in carcinogenesis, Amon said. Being remarkably unstable, cancer cells can delete gene copies at every turn of the corner. If the loss of a single tumor suppressor copy provides no survival advantage for the tumor, then the tumor has no incentive to retain the cell with that deletion. But if the loss of that copy boosts proliferation, then the probability of a second hit later is greatly increased. "So haploinsufficiency is a way for the cancer cell to dramatically accelerate the acquisition of growth beneficial mutations," Amon said.

In other words, all it takes is a 50 percent reduction in gene activity for a cancer cell to grow. "That tells us it's a lot easier to get cancer than we might have hoped," Amon said.

According to Elledge, the number of hemizygotic deletions averages roughly six per tumor, with some tumors -- breast and pancreatic, for instance -- averaging up to ten. Each deletion involves 25 to 40 genes, many of them STOP genes, but also a few GO genes (growth enhancers and oncogenes) that enhance proliferation. That the STOP genes substantially outnumber their GO counterparts is important, Elledge explained, because it means cancer cells can tilt scales toward proliferation without also compromising it at the same time.

"The data reveal a lot of haploinsufficient players that have small effects individually, but large effects in combination," Elledge said. "Unfortunately, it's not easy to see how to take advantage of that chemotherapeutically."

What's important about the results, he emphasized, is that they open up new views on how tumors evolve. Moreso, they underscore the importance of proliferation as a fundamental feature of tumor growth, he added.

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Cancer may require simpler genetic mutations than previously thought

Washington, May 25 : Detailed knowledge about your genetic makeup'the interplay between genetic variants and other genetic variants, or between genetic variants and environmental risk factors'may only change your estimated disease prediction risk for three common diseases by a few percentage points, which is typically not enough to make a difference in prevention or treatment plans, say researchers.

The study by Harvard School of Public Health (HSPH) researchers is the first to revisit claims in previous research that including such information in risk models would eventually help doctors either prevent or treat diseases.

'While identifying a synergistic effect between even a single genetic variant and another risk factor is known to be extremely challenging and requires studies with a very large number of individuals, the benefit of such discovery for risk prediction purpose might be very limited,' said lead author Hugues Aschard, research fellow in the Department of Epidemiology.

Scientists have long hoped that using genetic information gleaned from the Human Genome Project and other genetic research could improve disease risk prediction enough to help aid in prevention and treatment. Others have been skeptical that such 'personalized medicine' will be of clinical benefit.

Still others have argued that there will be benefits in the future, but that current risk prediction algorithms underperform because they don't allow for potential synergistic effects'the interplay of multiple genetic risk markers and environmental factors'instead focusing only on individual genetic markers.

Aschard and his co-authors, including senior author Peter Kraft, HSPH associate professor of epidemiology, examined whether disease risk prediction would improve for breast cancer, type 2 diabetes, and rheumatoid arthritis if they included the effect of synergy in their statistical models. But they found no significant effect by doing so.

'Statistical models of synergy among genetic markers are not 'game changers' in terms of risk prediction in the general population,' said Aschard.

The researchers conducted a simulation study by generating a broad range of possible statistical interactions among common environmental exposures and common genetic risk markers related to each of the three diseases. Then they estimated whether such interactions would significantly boost disease prediction risk when compared with models that didn't include these interactions since, to date, using individual genetic markers in such predictions has provided only modest improvements.

For breast cancer, the researchers considered 15 common genetic variations associated with disease risk and environmental factors such as age of first menstruation, age at first birth, and number of close relatives who developed breast cancer.

For type 2 diabetes, they looked at 31 genetic variations along with factors such as obesity, smoking status, physical activity, and family history of the disease. For rheumatoid arthritis, they also included 31 genetic variations, as well as two environmental factors: smoking and breastfeeding.

Continued here:

Genetic information may not significantly improve disease risk prediction

Your DNA may hold valuable information about your health, but current genetic tests can't improve doctors' ability to predict your risk of major disease.

Don Bishop / Getty Images

Our genome the blueprint for what makes us who we are can provide valuable clues about our health and potentially help us predict our risk for various diseases. But a new study shows that knowledge of our DNA isnt actually as revealing as doctors hoped.

In a report published in the American Journal of Human Genetics, scientists at the Harvard School of Public Health found that incorporating genetic information did not improve doctors ability to predict disease risk above and beyond standard risk factors, including things like family history, lifestyle and behavior. So, having detailed genetic information didnt change doctors prevention or treatment plans.

For most people, your doctors advice before seeing your genetic test for a particular disease will be exactly the same as after seeing your tests, Peter Kraft, a co-author of the paper and an epidemiologist at the Harvard School of Public Health, said in a statement.

The researchers looked at risk factors both genetic and environmental for three common, chronic diseases, breast cancer, Type 2 diabetes and rheumatoid arthritis. All conditions are known to be influenced by some genetic and some lifestyle factors. The researchers wanted to determine whether adding information about the interplay of these factors would improve the sensitivity of disease risk prediction.

(MORE: Genetic Testing for Kids: Is It a Good Idea?)

For breast cancer, the scientists created a simulation that included 15 common genetic variants associated with increased risk of the disease, along with environmental factors, such as a womans age at first period, age when she gave birth to her first child and the number of close relatives affected by breast cancer. For Type 2 diabetes, researchers included 31 genetic variants, as well as lifestyle factors like obesity, physical activity, smoking status and family history of diabetes. Finally, for rheumatoid arthritis, they considered 31 genetic variants and two major lifestyle risk factors smoking and breast-feeding.

The researchers analyzed whether interactions among the genes, or interactions between genes and environmental factors, significantly changed the risk profile for any of these diseases. The disease models generated a variety of statistical combinations of genetic and environmental factors, but none produced any marked improvement in predicting disease risk over the lifestyle factors alone.

So, while genome sequencing has become a popular buzzword in medicine, the researchers conclude that given our current limited ability to interpret the genome or understand the complex interplay between genes and environment, getting genetic tests or whole-genome sequencing may not be as helpful as it could be when it comes to informing our health decisions. Even with the current list of 15 genetic variants associated with breast cancer, for example, scientists cant tell which variants are driving disease or are necessary to cause it, and which are merely along for the ride.

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Why Genetic Tests Don’t Help Doctors Predict Your Risk of Disease

BOSTON The great promise of the Human Genome Project is that if we can crack the genetic code in each of our cells, we may be able to predict what diseases we might get and prevent them. But more than a decade into this project, no medical miracles have been produced. Now, a new study by the Harvard School of Public Health has more disappointing news. WBURs All Things Considered host Sacha Pfeiffer spoke with the studys senior author, Peter Kraft, an associate professor of epidemiology at Harvard.

Sacha Pfeiffer: Your study looked at one of the possible key reasons for why simply mapping the human genome as huge a scientific accomplishment as that is might not alone be enough to start curing or preventing diseases. What else have researchers thought might be necessary to do that?

Peter Kraft: Weve actually been fabulously successful, in the last five years especially, in finding genetic variants that are associated with disease risk. But when people looked and asked the question, Do these actually help us predict whos going to be at high risk? the answer was mostly no. And one of reasons that might have been is that people looked at these variants in isolation, one at a time. But if you considered how they work together, and how they work together with the environment, to influence cancer risk or disease risk generally, people thought that might help boost the predictive ability.

So in terms of how genes work with other genes, or how genes react if you smoke, or if youre overweight, or if youve taken hormones that kind of thing?

Right, exactly. So the models up till now have assumed that a gene is a gene and its effect is the same whether you smoke or not. But, of course, that may not be the case and in fact probably isnt the case.

And so in your study you took those factors into account environmental and lifestyle factors. What did you find?

We sort of played a thought experiment and said, What if we knew how actually these things worked together? And given that information we tried to predict who was at high risk and who was at low risk. And we found that even knowing that information, which were a long way from knowing and understanding but even if we knew it, the change in the risk estimates would not be all that great. Its giving us a 1 to 3 percent increase of our ability to detect people who are at high risk.

Is that not a very useful increase?

Well, it depends on the context, but not necessarily. It seems to be in the range where your decision as a patient and your clinicians recommendations wouldnt really change that much. So given what they knew before they drew your blood and looked at your genetics, their recommendation would probably be the same.

So your study tells us that if we get our genes mapped, we might learn a little bit more if were at risk of a disease, but not very much to help our doctors. So where does that leave us in terms of our hopes for the Humane Genome Project and this idea that we could create personalized medicine customized for every individual?

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Study: Knowing Genetic Makeup May Not Help Predict Disease Risk

ASTANA, Kazakhstan, May 24, 2012 /PRNewswire/ --Sir Richard Roberts, the eminent British biologist and Nobel Prize laureate, said today European opposition to genetically modified organisms is political rather than scientific in nature.

He also said "personal medicine" based on human genome research holds large-scale promise to improve the health of the world's people on an individualized basis.

Roberts, who won the Nobel in 1993 for his shared discovery of split genes, made his remarks at the Astana Economic Forum, a global conference of scientists, academics, multinational executives and government leaders.

"On a political level, governments must embrace genetically modified organisms (GMOs) and not give way to European prophets of doom, who oppose the use of GMOs for purely political reasons," said Roberts. "It is important to note there is a complete absence of evidence that GMOs can cause any harm. Indeed to any well-informed scientist, traditionally bred plants seem much more likely to be harmful than GMOs."

Roberts predicted growing knowledge of the human genome will yield better medical treatments and diagnostics. "It is just as important that we learn more about the bacteria that colonize our bodies since they are an essential part of what it means to be human," he said.

He also predicated synthetic biology will enable scientists to build novel microorganisms from "scratch."

"Most exciting is the promise of stem cells where the challenge is to understand how they drive their differentiation into all of the other cell types in our bodies," Roberts said. "While I do not advocate prolonging life indefinitely, I am very much in favor of ensuring that as we age, the quality of our life does not diminish."

The annual Astana Economic Forum this year has drawn thousands of participants from more than 80 nations to this rapidly growing Central Asian nation. There has been much focus at the current sessions on the Greek financial crisis and turbulence in the Euro currency, in addition to the broader economic, scientific and international trade issues that are a traditional mainstay at Astana.

Deal making is a big part of both the official and the unofficial agenda at Astana. Multinationals represented include Chevron, Toyota, Nestle, Microsoft, BASF, Total, General Electric.

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Nobelist Speaks Out on Genetic Modification, Synthetic Biology, Stem Cell Research

Public release date: 24-May-2012 [ | E-mail | Share ]

Contact: Marge Dwyer mhdwyer@hsph.harvard.edu 617-432-8416 Harvard School of Public Health

Boston, MA Harvard School of Public Health (HSPH) researchers have found that detailed knowledge about your genetic makeupthe interplay between genetic variants and other genetic variants, or between genetic variants and environmental risk factorsmay only change your estimated disease prediction risk for three common diseases by a few percentage points, which is typically not enough to make a difference in prevention or treatment plans. It is the first study to revisit claims in previous research that including such information in risk models would eventually help doctors either prevent or treat diseases.

"While identifying a synergistic effect between even a single genetic variant and another risk factor is known to be extremely challenging and requires studies with a very large number of individuals, the benefit of such discovery for risk prediction purpose might be very limited," said lead author Hugues Aschard, research fellow in the Department of Epidemiology.

The study appears online May 24, 2012 and will appear in the June 8, 2012 print issue of The American Journal of Human Genetics.

Scientists have long hoped that using genetic information gleaned from the Human Genome Project and other genetic research could improve disease risk prediction enough to help aid in prevention and treatment. Others have been skeptical that such "personalized medicine" will be of clinical benefit. Still others have argued that there will be benefits in the future, but that current risk prediction algorithms underperform because they don't allow for potential synergistic effectsthe interplay of multiple genetic risk markers and environmental factorsinstead focusing only on individual genetic markers.

Aschard and his co-authors, including senior author Peter Kraft, HSPH associate professor of epidemiology, examined whether disease risk prediction would improve for breast cancer, type 2 diabetes, and rheumatoid arthritis if they included the effect of synergy in their statistical models. But they found no significant effect by doing so. "Statistical models of synergy among genetic markers are not 'game changers' in terms of risk prediction in the general population," said Aschard.

The researchers conducted a simulation study by generating a broad range of possible statistical interactions among common environmental exposures and common genetic risk markers related to each of the three diseases. Then they estimated whether such interactions would significantly boost disease prediction risk when compared with models that didn't include these interactions since, to date, using individual genetic markers in such predictions has provided only modest improvements.

For breast cancer, the researchers considered 15 common genetic variations associated with disease risk and environmental factors such as age of first menstruation, age at first birth, and number of close relatives who developed breast cancer. For type 2 diabetes, they looked at 31 genetic variations along with factors such as obesity, smoking status, physical activity, and family history of the disease. For rheumatoid arthritis, they also included 31 genetic variations, as well as two environmental factors: smoking and breastfeeding.

But, for each of these disease models, researchers calculated that the increase in risk prediction sensitivitywhen considering the potential interplay between various genetic and environmental factorswould only be between 1% and 3% at best.

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Knowing genetic makeup may not significantly improve disease risk prediction

IntegenX has appointed David Smith to serve as its new COO. Smith most recently served as CFO of Thoratec, and previous to that was CFO at Chiron. He currently is chair of the audit committee and a director of OncoGenex Pharmaceuticals and previously was chair of the audit committee and a director of Perlegen Sciences.

Vermillion said this week that President and CEO Gail Page will be leaving the company by September and the firm has begun the process to find her successor. Page also has resigned her seat on the board of directors, and effective immediately Vermillion amended its bylaws to eliminate the vacant seat, reducing its board from seven to six members.

Genomic Health has appointed Richard Tompane as president of its new subsidiary InVitae, which will focus on developing next-generation-based sequencing diagnostics for genetic diseases. Tompane was previously president and CEO of Gemfire and has also served as an independent consultant.

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Greenwood Genetic Center Nets $275K to Develop Array-Based Autism Test

Public release date: 22-May-2012 [ | E-mail | Share ]

Contact: Dina Basin dina.basin@sri.com 650-862-1657 SRI International

In a step toward understanding possible genetic differences in smoking behaviors, a team of researchers co-led by SRI International has identified a genetic marker associated with smoking quantity in people of African ancestry. The study's findings may help guide future public health decisions related to smoking, because the more people smoke, the higher their risk of lung cancer.

The genetic variant, called rs2036527, appears to function as a marker of smoking quantity in African Americans, predicting the number of cigarettes smoked per day. It is on the same nicotine receptor gene, located on Chromosome 15, as another marker previously identified in people of European descent. Earlier studies have also shown that this gene plays a role in limiting nicotine intake by affecting how pleasurable nicotine is, which in turn affects how much nicotine is consumed.

Findings from the Study of Tobacco Use in Minority Populations (STOMP) Genetics Consortium study are published in the May 22, 2012 issue of Translational Psychiatry (part of Nature Publishing Group).

To find the genetic variants for smoking behavior, researchers combined 13 genome-wide association studies. The result included data for genetics and smoking behavior for more than 32,000 African Americans.

Although African Americans are less likely to smoke than European Americans, if they do start smoking, they tend to start smoking later in life, are less likely to quit smoking, and die more often from smoking-related lung cancer. Smoking is the leading cause of premature death among African Americans. STOMP investigators did not assess lung cancer risk, but other researchers have found that the genetic marker (rs2036527) is associated with risk of lung cancer in African Americans.

"This study may have implications for personalized medicine and the need to identify targets for drug discovery." said Sean P. David, M.D., D.Phil., research physician and director of the Translational Medicine program in the Center for Health Sciences in SRI's Policy Division and also a family medicine physician and Clinical Associate Professor of Medicine at Stanford University School of Medicine. "However, we need to be careful not to draw conclusions about the degree to which a genetic variant associated with smoking quantity affects smoker's ability to quit. Future studies of smoking behavior, including smoking cessation clinical trials, should be performed in non-European ancestry groups, so that other informative biomarkers aren't missed."

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The STOMP study, done in collaboration with 78 researchers from dozens of academic institutions and the National Institutes of Health, is the first meta-analysis of genome-wide association studies of smoking behaviors among African Americans. Meta-analysis is a powerful technique that combines a number of similar research questions and studies. Using statistical techniques, researchers were able to find genetic linkages to smoking behaviors too subtle to see in small studies.

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Genetic marker may predict smoking quantity in African Americans

MENLO PARK, Calif., May 22, 2012 /PRNewswire/ -- In a step toward understanding possible genetic differences in smoking behaviors, a team of researchers co-led by SRI International has identified a genetic marker associated with smoking quantity in people of African ancestry. The study's findings may help guide future public health decisions related to smoking, because the more people smoke, the higher their risk of lung cancer.

The genetic variant, called rs2036527, appears to function as a marker of smoking quantity in African Americans, predicting the number of cigarettes smoked per day. It is on the same nicotine receptor gene, located on Chromosome 15, as another marker previously identified in people of European descent. Earlier studies have also shown that this gene plays a role in limiting nicotine intake by affecting how pleasurable nicotine is, which in turn affects how much nicotine is consumed.

Findings from the Study of Tobacco Use in Minority Populations (STOMP) Genetics Consortium study are published in the May 22, 2012 issue of Translational Psychiatry (part of Nature Publishing Group).

To find the genetic variants for smoking behavior, researchers combined 13 genome-wide association studies. The result included data for genetics and smoking behavior for more than 32,000 African Americans.

Although African Americans are less likely to smoke than European Americans, if they do start smoking, they tend to start smoking later in life, are less likely to quit smoking, and die more often from smoking-related lung cancer. Smoking is the leading cause of premature death among African Americans. STOMP investigators did not assess lung cancer risk, but other researchers have found that the genetic marker (rs2036527) is associated with risk of lung cancer in African Americans.

"This study may have implications for personalized medicine and the need to identify targets for drug discovery," said Sean P. David, M.D., D.Phil., research physician and director of the Translational Medicine program in the Center for Health Sciences in SRI's Policy Division and also a family medicine physician and Clinical Associate Professor of Medicine at Stanford University School of Medicine. "However, we need to be careful not to draw conclusions about the degree to which a genetic variant associated with smoking quantity affects smoker's ability to quit. Future studies of smoking behavior, including smoking cessation clinical trials, should be performed in non-European ancestry groups, so that other informative biomarkers aren't missed."

The STOMP study, done in collaboration with 78 researchers from dozens of academic institutions and the National Institutes of Health, is the first meta-analysis of genome-wide association studies of smoking behaviors among African Americans. Meta-analysis is a powerful technique that combines a number of similar research questions and studies. Using statistical techniques, researchers were able to find genetic linkages to smoking behaviors too subtle to see in small studies.

SRI research was funded 100% by the Department of Health & Human Services (HHS) Grant No. 5-U01-DA-020830-07. The total dollar amount of the grant is $158,221, of which a nominal amount went to support the research described above. SRI received no other source of funding for this work.

About SRI InternationalSilicon Valley-based SRI International, a nonprofit research and development organization, performs sponsored R&D for governments, businesses, and foundations. SRI brings its innovations to the marketplace through technology licensing, new products, and spin-off ventures. SRI is known for world-changing innovations in computing, health and pharmaceuticals, chemistry and materials, sensing, energy, education, national defense, and more.

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Researchers Find Genetic Marker that May Predict Smoking Quantity in African Americans