Largest genetic sequencing study of human disease

May 22, 2013 ? Researchers from Queen Mary, University of London have led the largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases.

The exact cause of these diseases -- autoimmune thyroid disease, celiac disease, Crohn's disease, psoriasis, multiple sclerosis and type 1 diabetes- is unknown, but is believed to be a complex combination of genetic and environmental factors. In each disease only a proportion of the heritability is explained by the identified genetic variants. The techniques used to date, have generally identified common (in the population) variants of weak effect.

In this study, using high-throughput sequencing techniques,a global team of scientists sought to identify new variants, including rare and potentially high risk ones, in 25 previously identified risk genes in a sample of nearly 42,000 individuals (24,892 with autoimmune disease and 17,019 controls).

It has been suggested -- in the 'rare-variant synthetic genome-wide association hypothesis' -- that a small number of rare variants in risk genes are likely to be a major cause of the heritability of these conditions. However, the study published today in the journal Nature, suggests that the genetic risk of these diseases more likely involves a complex combination of hundreds of weak-effect variants which are each common in the population.

The authors estimate that rare variants in these risk genes account for only around three per cent of the heritability of these conditions that can be explained by common variants.

David van Heel, Professor of Gastrointestinal Genetics at Barts and The London School of Medicine and Dentistry at Queen Mary and director of the Barts and The London Genome Centre, led the study. He said: "These results suggests that risk for these autoimmune diseases is not due to a few high-risk genetic variations but seems rather due to a random selection from many common genetic variants which each have a weak effect.

"For each disease there are probably hundreds such variants and the genetic risk is likely to come from inheriting a large number of these variants from both parents. If this is the case then it may never be possible to accurately predict an individual's genetic risk of these common autoimmune diseases. However, the results do provide important information about the biological basis of these conditions and the pathways involved, which could lead to the identification new drug targets."

The research utilised high-throughput sequencing techniques performed at the Barts and The London Genome Centre and demonstrated for the first time that the sequencing can call genotypes as accurately as 'gold standard techniques' such as genotyping array platforms. Additional laboratory work was carried out at the Blizard institute at Queen Mary.

Professor Richard Trembath, Vice Principal and Executive Dean for Health at Barts and The London School of Medicine and Dentistry, Queen Mary, and a co-author on the paper said: "The results prompt a re-assessment of the genetic architecture that determines risk for development of common auto-immune disorders and will fuel future careful assessment of regions of the human genome beyond those presently known to confer susceptibility to these important medical conditions."

This study was primarily funded by the Medical Research Council with additional funding from Coeliac UK.

Source: http://feeds.sciencedaily.com/~r/sciencedaily/top_news/top_health/~3/YB1h5ioWbVo/130522131124.htm

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Daft Punkitecture Around The World

Daft Punk recently released this slick and stylish photo shoot set in a famous LA modernist house, though we here at Architizer think there?s more here than meets the eye. What other ?Daft Punkitecture? is out there in the world waiting to be found?

Read more...

Source: http://feeds.gawker.com/~r/gizmodo/full/~3/Rw3Tl-Qk9Ns/daft-punkitecture-around-the-world-509131149

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European Union Leaders Meet on Tax Avoidance

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Source: www.nytimes.com --- Wednesday, May 22, 2013
The forum was to focus on entities based in Europe, but it comes after the United States Senate found that Apple had reduced taxes by recording income in Ireland. ? ? ? ? ...

Source: http://www.nytimes.com/2013/05/23/business/global/european-union-leaders-meet-on-tax-avoidance.html?partner=rss&emc=rss

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Slow earthquakes: It's all in the rock mechanics

May 20, 2013 ? Earthquakes that last minutes rather than seconds are a relatively recent discovery, according to an international team of seismologists. Researchers have been aware of these slow earthquakes, only for the past five to 10 years because of new tools and new observations, but these tools may explain the triggering of some normal earthquakes and could help in earthquake prediction.

"New technology has shown us that faults do not just fail in a sudden earthquake or by stable creep," said Demian M. Saffer, professor of geoscience, Penn State. "We now know that earthquakes with anomalous low frequencies -- slow earthquakes -- and slow slip events that take weeks to occur exist."

These new observations have put a big wrinkle into our thinking about how faults work, according to the researchers who also include Chris Marone, professor of geosciences, Penn State; Matt J. Ikari, recent Ph.D. recipient, and Achim J. Kopf, former Penn State postdoctural fellow, both now at the University of Bremen, Germany. So far, no one has explained the processes that cause slow earthquakes.

The researchers thought that the behavior had to be related to the type of rock in the fault, believing that clay minerals are important in this slip behavior to see how the rocks reacted. Ikari performed laboratory experiments using natural samples from drilling done offshore of Japan in a place where slow earthquakes occur. The samples came from the Integrated Ocean Drilling Program, an international collaborative. The researchers reported their results recently in Nature Geoscience.

These samples are made up of ocean sediment that is mostly clay with a little quartz.

"Usually, when you shear clay-rich fault rocks in the laboratory in the way rocks are sheared in a fault, as the speed increases, the rocks become stronger and self arrests the movement," said Saffer. "Matt noticed another behavior. Initially the rocks reacted as expected, but these clays got weaker as they slid further. They initially became slightly stronger as the slip rate increased, but then, over the long run, they became weaker."

The laboratory experiments that produced the largest effect closely matched the velocity at which slow earthquakes occur in nature. The researchers also found that water content in the clays influenced how the shear occurred.

"From the physics of earthquake nucleation based on the laboratory experiments we would predict the size of the patch of fault that breaks at tens of meters," said Saffer. "The consistent result for the rates of slip and the velocity of slip in the lab are interesting. Lots of things point in the direction for this to be the solution."

The researchers worry about slow earthquakes because there is evidence that swarms of low frequency events can trigger large earthquake events. In Japan, a combination of broadband seismometers and global positioning system devices can monitor slow earthquakes.

For the Japanese and others in earthquake prone areas, a few days of foreknowledge of a potential earthquake hazard could be valuable and save lives.

For slow slip events, collecting natural samples for laboratory experiments is more difficult because the faults where these take place are very deep. Only off the north shore of New Zealand is there a fault that can be sampled. Saffer is currently working to arrange a drilling expedition to that fault.

The National Science Foundation and the Deutsche Forschungsgemeinschaft supported this work.

Source: http://feeds.sciencedaily.com/~r/sciencedaily/most_popular/~3/8I4KmSqzd7g/130520114021.htm

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Where do you hold your cell phone? Your brain decides

Your gadgets

Nidhi Subbaraman NBC News

2 hours ago

Getty Images

Right-handed and left-brained?

When you talk on the cellphone, do you hold it up to your right ear or left?

A group of researchers at the Henry Ford Health System in Michigan suggest that how you hold your phone could give away the dominant half of your brain.

The lesson the group took away was this: Most right-handed people, who eat and write and throw with their right hand, also prefer to talk with their cellphone held up to their right ear. Left-handed people hold their phone to their left ear.

They explain their findings involving 717 subjects in the Journal of the American Medical Association's Head and Neck Surgery journal in May this year.

Of all the people who took an online survey, 90 percent were right-handed. And more than half of them ? 68 percent ? said they held their phone to their right ear. Among the left-handed phone holders (65 people in all) 72 percent said they held up their phone to their right ear.

There were some caveats: Some survey responders did note that their capable hand (rather than their listening ear) was what guided their cellphone holding habits ? right-handed folks did note that the device just felt more comfortable in their right hand. Also, people's natural cellphone handedness was thrown off if they had trouble hearing with one ear ? as you'd expect, they held the phone to the ear that worked.

Nidhi Subbaraman writes about technology and science. Follow her on Facebook, Twitter and Google+.

Source: http://feeds.nbcnews.com/c/35002/f/653377/s/2c2993d4/l/0L0Stoday0N0Ctech0Cwhere0Edo0Eyou0Ehold0Eyour0Ecell0Ephone0Eyour0Ebrain0Edecides0E6C9996516/story01.htm

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Next-gen consoles ready to thrive, says Riccitiello - GamesIndustry.biz

Despite recent disruption in the gaming industry, former Electronic Arts CEO John Riccitiello thinks the next-gen consoles can excel even in a world of smartphones and tablets. In a guest column on Kotaku today, Riccitiello laid out what he sees as four potential stumbling blocks that, if avoided, will guarantee next-gen success for Microsoft and Sony.

Ricitiello's first point of emphasis was that the systems need to be aimed squarely at gamers. To reach the core audience, the new consoles shouldn't be positioned as all-in-one multimedia boxes.

"The risk is that either or both of the new platforms emphasize these 'value-add' experiences too much, both in the user interface on the consoles themselves, or in the story they tell consumers when they unleash their avalanche of advertising," Riccitiello said.

The second and third points were more about not repeating the mistakes of previous console launches. Specifically, Riccitiello said supply chains need to be improved such that anyone who wants a new console at launch can find one on shelves, and the end product needs to be priced low enough that consumers will snatch up all the systems produced.

Finally, Riccitiello said Microsoft and Sony need to tread lightly around "third-rail topics" like DRM and second-hand game sales. In his view, the solution is to make the console ecosystem more open, and less of a walled garden. If they play their cards right, Microsoft and Sony will actually find gamers will "learn to love" more connected console experiences, Riccitiello said.

"It needs to be simple, seamless and without a bunch of headaches with multiple registration, identity and pay gates," Riccitiello said. "The walled garden will fall eventually."

Source: http://www.gamesindustry.biz/articles/2013-05-20-next-gen-consoles-ready-to-thrive-says-riccitiello

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Link between childhood ADHD and obesity revealed in first long-term study

May 20, 2013 ? A new study conducted by researchers at the Child Study Center at NYU Langone Medical Center found men diagnosed as children with attention-deficit/hyperactivity disorder (ADHD) were twice as likely to be obese in a 33-year follow-up study compared to men who were not diagnosed with the condition.

The study appears in the May 20 online edition of Pediatrics.

"Few studies have focused on long-term outcomes for patients diagnosed with ADHD in childhood. In this study, we wanted to assess the health outcomes of children diagnosed with ADHD, focusing on obesity rates and Body Mass Index," said lead author Francisco Xavier Castellanos, MD, Brooke and Daniel Neidich Professor of Child and Adolescent Psychiatry, Child Study Center at NYU Langone. "Our results found that even when you control for other factors often associated with increased obesity rates such as socioeconomic status, men diagnosed with ADHD were at a significantly higher risk to suffer from high BMI and obesity as adults."

According to the Centers for Disease Control and Prevention, ADHD is one of the most common neurobehavioral disorders, often diagnosed in childhood and lasting into adulthood. People with ADHD typically have trouble paying attention, controlling impulsive behaviors and tend to be overly active. ADHD has an estimated worldwide prevalence of five percent, with men more likely to be diagnosed than women.

The prospective study included 207 white men diagnosed with ADHD at an average age of 8 and a comparison group of 178 men not diagnosed with childhood ADHD, who were matched for race, age, residence and social class. The average age at follow up was 41 years old. The study was designed to compare Body Mass Index (BMI) and obesity rates in grown men with and without childhood ADHD.

Results showed that, on average, men with childhood ADHD had significantly higher BMI (30.1 vs. 27.6) and obesity rates (41.1 percent vs. 21.6 percent) than men without childhood ADHD.

"The results of the study are concerning but not surprising to those who treat patients with ADHD. Lack of impulse control and poor planning skills are symptoms often associated with the condition and can lead to poor food choices and irregular eating habits," noted Dr. Castellanos. "This study emphasizes that children diagnosed with ADHD need to be monitored for long-term risk of obesity and taught healthy eating habits as they become teenagers and adults."

The research was supported by grants MH-18579 and T32 MH-067763 from the National Institute of Mental Health, grant DA-16979 from the National Institute on Drug Abuse and grant PIOF-253103 from the European Commission.

Co-authors of the study include Salvatore Mannuzza, PhD (retired); Samuele Cortese, MD, PhD, of the Phyllis Green and Randolph Cowen Institute for Pediatric Neuroscience and Verona University, Italy; Erika Proal, PhD, of the Phyllis Green and Randolph Cowen Institute for Pediatric Neuroscience and Neuroingenia, Mexico; Rachel G. Klein, PhD, and Maria A. Ramos Olazagasti, PhD, of the Child Study Center at NYU Langone Medical Center.

Source: http://feeds.sciencedaily.com/~r/sciencedaily/living_well/~3/F-Y48m4kXdo/130520113925.htm

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