Autistic girls tend to have mutations in more genes than autistic boys.Alix Minde/ Photolibrary
The most comprehensive search yet for spontaneous genetic mutations associated with autism spectrum disorders suggests that hundreds of regions in the genome may have a hand in causing such conditions.
Analyses reported in three papers published this week in Neuron1,2,3 dramatically expand the list of known genetic culprits. Two of the studies also shed light on a long-standing mystery: why are boys four times more likely to have autism than girls1,2? The researchers found that girls with autism tend to have many more mutated genes than boys with the disorder, suggesting that it generally takes a larger genomic change to cause autism in girls.
Autism is difficult to pin down. A wide range of symptoms, many involving difficulties in social interactions and communication, are united under the diagnoses of autism spectrum disorders. And although it is estimated that such conditions are more than 90% heritable, quests to find common mutations associated with them have not yet yielded any reproducible hits, says Stephen Scherer, a geneticist at the Hospital for Sick Children in Toronto, Canada, who was not involved in any of the studies.
"Autism is a heterogeneous disease, both clinically and genetically," he notes.
In 2007, Michael Wigler, a geneticist at Cold Spring Harbor Laboratory in New York, and his colleagues showed that spontaneous mutations — those that arise for the first time in an individual, rather than being inherited — are important in about half of all cases of autism4 (see New mutations implicated in half of autism cases). A follow-up study5 in 2010, of 996 autistic individuals, found that people with autism carry a heavy load of rare duplications or deletions in regions of the genome that contain genes.“Perhaps the lessons to be learned are in the females.”
Now Wigler and his group, as well as a team headed up by Matthew State, a geneticist at the Yale University School of Medicine in New Haven, Connecticut, have expanded on that search, using higher-resolution techniques to trawl through the genome1,3. The researchers searched the DNA of more than 1,000 individuals with autism and their unaffected family members, looking for rare mutations that duplicate or delete segments of the genetic code. The teams focused largely on spontaneous mutations.
Their results indicate that spontaneous duplications or deletions of at least 130 sites in the genome could contribute to the risk of autism. Wigler believes that in total there are closer to 400 such sites. "It is a large number," he acknowledges, and that will make it harder to develop therapies that will benefit a large fraction of patients. "Given the number of genes that might cause autism, one shouldn't expect that one treatment is going to cure them all," says Wigler.
State's team made an intriguing finding in a segment of chromosome 7. Deletion of the region is associated with Williams–Beuren Syndrome, a condition that is linked to hypersocial behaviour. Duplication of the same region, they found, is associated with autism, which is linked to antisocial behaviour3.
The region spans many genes, and for now it is unclear which might be responsible for the effects. "But there's clearly something there that's highly relevant to social behaviour," says State. "The neurobiology of that region is going to be extraordinarily interesting."
Wigler also teamed up with Dennis Vitkup, a computational biologist at Columbia University in New York City, to learn more about the neurobiology of the rare variants that his analysis had uncovered. The team analysed the relationships among spontaneously mutated genes that were likely to be involved in brain function, and found that many clustered into a large network that governs the creation and activity of connections between nerve cells2.
Vitkup's team is now trying to determine whether the network that they have discovered could be used to construct a diagnostic test for autism.
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Overall, the results have dramatically lengthened the list of genes that may have a role in causing autism, says Scherer. "This gives us a lot more data that we can use to start to pin autism down," he says.
One finding that will be pursued further is that girls are somehow shielded from the effects of mutations that are linked to autism in boys. Wigler's team found that autistic girls tended to have deletions or duplications in more genes than autistic boys.
That, says Scherer, suggests that one approach to developing therapies may lie in determining what protects the female brain from autism — and then activating those pathways in boys. "If you want to think about an approach to therapeutic intervention," he says, "perhaps the lessons to be learned are in the females."
- Levy, D. et al. Neuron doi:10.1016/j.neuron.2011.05.015 (2011).
- Gilman, S. R. et al. Neuron doi:10.1016/j.neuron.2011.05.021 (2011).
- Sanders, S. J. et al. Neuron doi:10.1016/j.neuron.2011.05.002 (2011).
- Zhao, X. , et al. Proc. Natl Acad. Sci. USA 104, 12831-12836 (2007).
- Pinto, D. , et al. Nature 466, 368-372 (2010).
Thursday, June 09, 2011
That's right, we Americans spend more on our military than all other countries (with any significant military) combined. And the total is roughly equivalent to a major banking bailout (that magic $700 billion number) every year.
Now, I'm all for the soldier/veteran, and I think they deserve the best salaries and benefits in the world. What I'm not for is the ridiculous level of spending on outdated weapons systems, horrendously large nuclear weapon stockpiles, single-source and no-bid contracts, and the whole military-industrial complex and its abhorrent pricing policies. Oh, and throw in private contractors, too! There is no reason we should be spending this much on "defense" unless we are planning to go to war with the rest of the world, including our allies. I certainly hope that's not the plan.
Wednesday, June 08, 2011
Did you hear the story about the group of millionaires who called a press conference Monday and called on Congress to levy higher taxes on them?
I didn't think so. On a day in which we were treated with TMI about a New York congressman's errant self portraits, the public was deprived of an important side to the controversy over raising taxes on people making more than $1 million. It turns out that middle-class people aren't alone in their support on raising taxes on this group.
A group that calls itself "Patriotic Millionaires" held a press conference to mark the 10-year anniversary of the Bush tax cuts and encourage Congress to put millionaire tax rates on the table in the budget debates. The group released a video featuring millionaire beneficiaries of the Bush tax cuts who say that the cuts should be rescinded for the good of the country.
A clear majority of Americans in all classes actually wants taxes to be increased on earnings above $250,000/yr. Yet Congress ignores this fact and the even bigger fact that the only way to seriously reduce the deficit is to raise revenue levels. The mainstream media is, of course, complicit in this purposeful ignorance of fact. That this is "news" is beyond irony.
Tuesday, June 07, 2011
Simple and succinct article about sugar and why we eat too much of it, along with some workable solutions.
The article speaks for itself. I was disgusted when Bush proposed the cuts, and I still am.
Monday, June 06, 2011
Ten years ago today, the first Bush tax cuts were signed into law. The fiscal damage they have inflicted is still unparalleled. But while the tax cuts for the top 2 percent of American earners will stay off the table until December 2012, there is any number of other progressive tax increases that Washington could adopt, but won't even consider. The public deserves to know what they are. Here are my picks:
1. Scrap the cap on earnings subject to the Social Security payroll tax. Did you know that millionaires and billionaires only make payroll tax contributions on earnings of $106,800? If you didn't, it could be because you are among the 94% of American earners who make less than that amount--and are taxed on all of their earnings as a result. Social Security payroll taxes are only paid on wages up to $106,800 with employees and employers contributing equally. Scrapping the cap on earnings subject to the payroll tax, while not counting earnings above the cap toward benefits, would eliminate Social Security's entire long-term shortfall. Since Social Security doesn't contribute to the deficit, scrapping the cap won't reduce the deficit. It will make Social Security solvent for the next 75 years, and tie its financial health to growth in earnings in the upper strata, which continue to grow more rapidly than middle- and lower-income earnings. (Click here for a complete fact sheet outlining different options for scrapping the cap.)
2. Enact a modest financial speculation tax. If we levied a 0.25 percent tax on every purchase and sale of stock, and a 0.02 percent tax on every purchase and sale of a future, option, or credit default swap, we would raise $1 trillion in revenue in the next decade. (Credit to Dean Baker for all the data.) It would have the added advantage of discouraging financial speculation, since its effect would be minimal on people holding investments for long periods of time.
3. Increase the corporate income tax rates by 1 percentage point. CEOs love to complain about how high the top corporate tax rate is in America. They say it discourages competition. They say we should have a rate that is closer to Ireland's 12.5 percent. (How's that doin' for Ireland?) But the truth is that all their whining is just empty bravado. While the top corporate tax rate is officially 35 percent, thanks to countless tax loopholes and accounting tricks, 115 out of the 500 companies on the Standard & Poor's index paid a total rate of less than 20 percent over the last five years. Maybe if we jack up their rate a little bit it will offset the effect of some of the loopholes. The Congressional Budget Office (CBO) estimates that, despite the loopholes, raising all corporate tax rates by 1 percentage point will generate $101 billion in revenue over the next ten years.
4. Impose a fee on large financial institutions. Remember the bailouts of 2008 and 2009? Good times. We gave the big banks over $1trillion in interest-free loans. The banks paid back the money they owed, but never paid interest on the principal. Nor do they pay for the implied guarantee that if they go under, the taxpayers will pick up the tab. A 0.15 percent tax on all financial institutions with assets of $50 billion or more is one small way to fix that. It will also provide the treasury with $71 billion over the next ten years, according to CBO.
5. Tax carried interest as income. The carried interest loophole is how hedge fund managers claim a portion of the earnings on funds they manage--typically 20 percent--and it is taxed at capital gains rates, which are much lower than income taxes. That's why, among other reasons, Warren Buffet pays a lower tax rate than his secretary. Taxing those earnings as income would net $21 billion over the next ten years. Again, my source here is CBO.
Runner up: Increase tariffs on imports from developing countries with lower labor and environmental standards. It's a great idea. It would strengthen American exports, protect our patented technology, and bring the government much-needed revenue. I just could not find a scored proposal of how much it would save.
I left out a carbon tax and a value-added tax, because absent significant correctives, neither is progressive. (Though both may be necessary.)
There you have it. Five progressive tax increases buy you an end to Social Security's funding gap, and more than $1.2 trillion in revenue. Bring income tax rates back to Reagan levels, and throw in a millionaire's surtax, and we could be enjoying single-payer health care aboard our high-speed trains.
Oh, well. It's nice to dream.
The silence is deafening. While the rest of the nation is heading back toward a double dip, Washington continues to obsess about future budget deficits. Why?
Republicans don’t want to do anything about jobs and wages. They’re so intent on unseating Obama they’d like the economy to remain in the dumps through Election Day. They also see the lousy economy as an opportunity to sell Americans their big lie that government spending is the culprit — and jobs will return if spending is cut and government shrinks.
Democrats, meanwhile, don’t want to admit the recovery has stalled. They worry such talk will further undermine consumer confidence or spook the bond market. They don’t want to head into the election year sounding downbeat. And they don’t think they have the votes for anything that will have much effect before Election Day anyway.
But there’s a third reason for Washington’s inaction. It’s not being talked about — which is itself evidence of the problem.
The unemployed are politically invisible. They don’t make major campaign donations. They don’t lobby Congress. There’s no National Association of Unemployed People.
Their ranks are filled with women who had been public employees, single mothers, minorities, young people trying to enter the labor force, and middle-aged men who have been out of work for longer than six months. You couldn’t find a collection of people with less political clout.
Women who had been teachers, public health professionals and social workers have been hit hard. These jobs continue to be slashed by state and local governments. Public schools alone accounted for nearly 40% of the nation’s total public sector job losses in the last year. From March 2010 to March 2011, women lost 214,000 public sector jobs, compared with a loss of 115,000 public jobs by men.
Unmarried mothers are having a particularly difficult time getting back jobs because their work was heavily concentrated in the retail, restaurant and hotel sectors. Many of these jobs disappeared when consumers reduced their discretionary spending, and they won’t come back in force until consumers start spending more again.
According to a new report by the California Budget Project, the recession erased more than half the jobs single mothers in California had gained from 1992 to 2002. The result has been a drop in the share of unmarried mothers in jobs, from 69.2% in 2007 to 58.8% in 2010. Unmarried mothers who still have jobs are working fewer hours per week than before.
Blacks also continue to be hard hit. Their unemployment rate here in California reached 20% this past March, up 5% from a year ago. That’s more than double their rate before the downturn. Some of this is because of the comparatively low education levels of many blacks, and their weak connections to the labor market. Some is due to employer discrimination. Blacks were among the last hired before the recession and therefore among the first to be let go in the downturn. That means they’ll be among the last hired as the economy recovers.
Many young people who have never been in the job market are unable to land a first job. Employers with a pick of applicants see no reason to hire someone without a track record, particularly those without much education. Unemployment among high school dropouts is hovering around 30%. Even recent college graduates are having a much harder time than usual finding a job. Many are settling for jobs that don’t ordinarily require college degrees, which pushes those with less education even further back in the line.
Older workers who have lost their jobs are at the greatest risk of continued unemployment. Employers assume they aren’t as qualified or reliable as those who are younger and have been working more recently. According to research by the Urban Institute, once you’re laid off, your chance of finding another job within a year is 36% if you’re under the age of 34. But your odds drop the older you get. If you’re jobless and in your 50s, your chance of landing another job within the year is only 24%. Over 62, you’ve got only an 18% chance.
What do these jobless have in common? They lack the political connections and organizations to get the ears of politicians, and demand policies to spur job growth.
Mr. Reich can speak with authority and insight on matters politico-economic. I wish he'd had more clout under Clinton, but at least he is being outspoken these days on Beltway policy and economics. Here he identifies the problem(s) well, but the solution(s)? The lobbyists and their clients have taken over, which is the equivalent of the foxes minding the chicken coop. And as long as SCOTUS is in the hands of a right-wing majority (which at this point is like forever), there won't be any viable solutions because any laws passed on, say, campaign finance reform, or any monopoly busting or lobby reform, will just get shot down the minute they are presented, which is never going to happen in the first place with the current situation in Washington. We're screwed!
Gee whillikers! Even the Washington Post has figured out that the GOP isn't really serious about deficit reduction, only about channeling more money to the already filthy (and I do mean filthy) rich.
6 June 2011 Last updated at 06:30 ET
Analysis: Fractured war effort against GaddafiBy Paul Danahar Middle East bureau editorThe rebels are full of enthusiasm but short on training and skillContinue reading the main story
First law of warfare? Don't shoot yourself.
I didn't know the name of the man barely out of his teens who was busy dying in the room next door.
Neither did Dr Suleiman Refadi who emerged from the operating theatre covered in his blood to pronounce him dead.
I don't know what he did before this war began. He may have been a skilled engineer, an inspired artist or a humble shopkeeper.
What I do know is that, as a soldier, he was a fool.
So foolish that he tried to clean his gun by banging it on the ground with the safety catch off, firing a bullet into his chest and creating an exit wound in his neck from which he bled to death.
And he was not alone. Ajdabiya was full of people like him - and increasingly so was its hospital - during the worst days of the fighting in eastern Libya.
Most had been injured by Gaddafi's troops. Others by their own side.
The fighters I met on the front line were generally aggressive, arrogant and clueless. That wasn't only my opinion.Strutting their stuffContinue reading the main story
“Start QuoteEnd Quote Magdi al-Shiek Young rebel fighter
It's the ones that waste ammunition that are the very first to run to the back when there is an attack”
Back in April, I met Magdi al-Shiek. He was in his 30s and was standing in the shadow of Ajdabiya's Western Gate, cradling a gun that was twice as old as he was.
"The young rebels will not listen because they believe this is their revolution," he told me.
"They say 'I am now free. I can do what ever I like'. But it's the ones that waste ammunition that are the very first to run to the back when there is an attack."
Now, two months on, the arches of the Western Gate of Ajdabiya are gone.
Gone too are the bands of ill-disciplined young men strutting around with their weapons slung over their shoulders like electric guitars.
The hospital that was a constant hive of activity is almost empty.
"We haven't had a casualty for three or four weeks," one of the medical staff told me. I tracked down Dr Refadi again. "What happened?" I asked him.
"You British stopped it," he told me with a big grin as he kissed me on both cheeks.
"You are in charge now. The British commanders came and said 'Stop, no more fighting!' And it all stopped."No winning card
The war on the eastern front is now in stalemate. The same could be said for the entire conflict.Libyan hospitals were packed with wounded fighters until British commanders stepped in
Using Western air power to save the residents of Benghazi from Gaddafi's troops was a good tactic to save lives. It was not a strategy to rid the country of his regime.
The mandate from UN resolution 1973, which authorised member states "to take all necessary measures… to protect civilian and civilian populated areas", has now been stretched so tight that you could get a tune out of it.
Since it was written, the aim of the game has clearly changed but the rules by which it is being played have not.
They explicitly exclude "a foreign occupation force of any form on any part of Libyan territory" - which is why it is taking such a long time to finish.
And nobody, particularly the French and the British, seems to know how to play the winning card, though both are hoping the new attack helicopters which went into action this weekend will trump Col Gaddafi and his men.
But they simply may not have as many cards as they need. The British carried out a strategic defence review which basically said that the UK should get rid of lots of expensive military hardware because after Iraq it is not going to have anymore wars of choice.
So they started getting rid of that expensive stuff and then the government signed up to... a war of choice. Oops.
Oh and yes - it is a war in Libya, let's stop pretending that it's not. It's that seductive little phrase "'regime change" again but this time in a new dress.Worse to come?Nato leaders want Col Gaddafi to go, but have no mandate to remove him
Lots of experts in the British government are itching to say: "I told you so". Many were unsure about the war right from the start and nothing that has happened since has made them change their minds.
The unemotional simply don't understand what Britain gains from all of this.
It might not have been so painful if the Obama administration had not completely wrong-footed the British and the French governments by making a quick exit and taking their best toys with them.
It has left the British once again pondering what they consider to be the "conundrum" of US foreign policy towards the Middle East.
The National Transitional Council in Benghazi does not yet have the mechanisms or capacity to control the war effort. The French and the British aren't in control of the general war effort against Colonel Gaddafi. Nato says it's not in control of the war effort. The Americans don't want to be.
So who is running it?
One thing for sure is that for the time being, it's not the young macho men with the AK-47s and for that everyone should be grateful.
But when Col Gaddafi is eventually ousted, as he surely will be, the reality of a post-war Libya will shine though.
A nation deeply divided on tribal, geographical lines and now political lines full of young men armed to the teeth no longer united by a common enemy and who often won't listen to anyone.
If the Libyan civil war looks like a mess now, much worse may be waiting around the corner.
The British and French governments may eventually look back on these quiet if confused days with a wistful nostalgia.
Sunday, June 05, 2011
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