ATLANTA – more than $1 billion has been spent over the past decade researching autism. in some ways, the search for its causes looks like a long-running fishing expedition, with a focus on everything from genetics to the age of the father, the weight of the mother, and how close a child lives to a freeway.

That perception may soon change. some in the field say they are seeing the beginning of a wave of scientific reports that should strengthen some theories, jettison others and perhaps even herald new drugs.

“I do think over the next three to five years we’ll be able to paint a much clearer picture of how genes and environmental factors combine” to cause autism, said Geraldine Dawson, a psychologist who is chief science officer for the advocacy group Autism Speaks.

The effort has been infused with new urgency by a recent federal report that found autism disorders are far more common than was previously understood, affecting 1 in 88 U.S. children. better diagnosis is largely responsible for the new estimate, but health officials said there may actually be more cases of autism, too.

If autism’s causes remain a mystery, “you’re not going to be able to stop this increase,” said Irva Hertz-Picciotto, a researcher at the University of California, Davis who is leading a closely watched study into what sparks autism disorders.

A spate of studies released during National Autism Awareness Month has offered tantalizing new information about potential causes. Research published in the journal Nature widened the understanding of the genetic roots of some cases and confirmed the elevated risks for children with older fathers. Another study, released online April 9 in Pediatrics, suggested maternal obesity may play a role.

To be sure, finding the causes of autism – an umbrella term for a variety of disorders that delay children socially or intellectually – remains daunting. The causes are believed to be complicated, and not necessarily the same for each child. some liken autism to cancer – a small word for a wide range of illnesses. in many cases, autism can be blamed on both genetic problems that load the gun and other factors that pull the trigger.

It has been a growing public concern for two decades, as studies have found it to be more and more prevalent. The U.S. government dramatically increased funding for autism research in the past decade, and now budgets about $170 million a year through the National Institutes of Health. That’s only about a quarter of what NIH will spend on breast cancer research and $50 million less than what it will spend on asthma.

But more than a half-dozen foundations and autism advocacy groups have been adding to the pot, putting annual research spending in recent years at more than $300 million. About a third of that has been devoted to finding autism’s causes.

The lion’s share of money for finding a cause has been spent on genetics, which so far experts believe can account for roughly 20 percent of cases. The earliest success was in the early 1990s and involved the discovery of the genetic underpinnings of Fragile X syndrome, a rare condition that accounts for just 2 percent to 4 percent of autism cases but is the most common form of inherited intellectual disability in boys.

The focus on genetics has been bolstered by dramatic improvements in gene mapping as well as the bioengineering of mice with autism symptoms. Dozens of risk genes have been identified, and a half-dozen drug companies are said to be working on developing new treatments.

“We’ve made some very significant progress on the genetics end of this search,” said Dr. Thomas Insel, director of the National Institute of Mental Health.

Scientists have used autistic mice to test new drugs. among the most promising is a small, white, strawberry-flavored pill that is so experimental it doesn’t have a name. Developed by a Massachusetts company called Seaside Therapeutics inc., the drug is aimed at a problem area in the brains of autistic children, where neurons connect and conduct signals through the nervous system.

It’s a bit like the way tree-hopping ants might cross the twig ends of one tree branch to another. in Fragile X syndrome, scientists have noted the branches are thinner and the twigs too numerous. The experimental drug thins the twigs and strengthens the branches, allowing a more solid and centralized bridge.

The same problem hasn’t been as visible in other types of autism, but many believe the phenomenon is somewhat similar.

The drug was deemed successful in mice and is now being tested in children and adults. in small, early studies, the drug made a striking difference in small groups of Fragile X children, causing hermit-like youngsters to start hanging out in the kitchen to chat with their mothers, said Dr. Paul Wang, Seaside’s vice president of clinical development.

Now it is being tried in a preliminary study of about 150 children with a range of other autism disorders, including Asperger’s. The results are expected to be presented at a scientific conference in the next year.

“It’s going to be an exciting time, we hope,” when those results come in, said Dawson, from Autism Speaks.

But even genetics enthusiasts acknowledge that genes are only part of the answer. Studies of identical twins have shown that autism can occur in one and not the other, meaning something outside a child’s DNA is triggering the disorder in many cases. some cases may be entirely due to other causes, Dawson said.

That broad “other” category means “environmental” influences – not necessarily chemicals, but a grab bag of outside factors that include things like the age of the father at conception and illnesses and medications the mother had while pregnant.

For years, the best-known environmental theory involved childhood vaccines, prompted by a flawed 1998 British study that has been thoroughly discredited. Dozens of later studies have found no link between vaccines and autism.

But there are other possible candidates. in all cases, these are “association” studies – they don’t prove cause and effect. They merely find connections between certain factors and autism. and sometimes these conclusions can be skewed by other things researchers failed to account for.

As study findings are reported, researchers are hoping to see repetition – confirmation, that is – that certain factors are playing significant roles.

Even so, scientists are still casting nets.

Said Coleen Boyle, a CDC official overseeing research into children’s developmental disabilities: “We’re at the infancy of just understanding how these factors relate to autism.”

Vitamin a supplements could reduce the risk of developing the deadly skin cancer melanoma, according to a new study.

The results show that people takingvitamin a were 60 percent less likely to develop melanoma over the six-year study. People who had taken the vitamin, but weren’t currently taking it, did not gain any protective effect. 

The reduced risk was more pronounced in women than men.

“This is promising evidence that in addition to sun protection, there’s another option that can help prevent melanoma,” said Dr. Mary Gail Mercurio, a dermatologist at the University of Rochester Medical Center, who was not involved with the study.  

Vitamin a is found in foods such as sweet potato, carrots, spinach, milk, eggs and liver. The vitamin plays an important role in vision, bone health, immune function and reproduction, but high doses of it can be toxic. 

The study appears today (March 1) in the Journal of Investigative Dermatology.

Genetics could increase melanoma risk

Melanoma is the sixth leading cause of cancer in the U.S., according to the American Cancer Society. About 76,000 cases of melanomas will be diagnosed this year, based on recent estimates.

In the study, researchers examined about 69,000 men and women, and after about six years, 566 had developed melanoma.

Among the 59,000 people in the study who had never taken vitamin a supplements, there were 506 cases of melanoma, while among the 5,800 people who were currently taking it and had used it regularly over the past 10 years, there were 28 cases.

Study researcher Dr. Maryam Asgari, a dermatologist and research scientist at Kaiser Permanente in Oakland, said the protective effect might be stronger in women than men because men may be more susceptible to skin damage from ultraviolet radiation.

She pointed to a recent animal study that suggests females may have more natural antioxidant protection in the skin than males.

The new study also found the melanoma risk was reduced the most in those who took high doses of the supplement. But Asgari cautioned that takingtoo much vitamin a could lead to such harmful conditions   as birth defects, liver problems and bone loss.

“There are limits to how much vitamin a a person can consume,” she said.

The recommended daily amount of vitamin a is 700 micrograms for adult women and 900 micrograms for adult men, according to the National Institutes of Health. Taking more than 2,800 micrograms of vitamin a could lead to toxic symptoms in adults.

Genetic risk

Reducing sunlight exposure has long been recommended to reduce the risk of melanoma. this includes limiting time in direct sunlight, wearing sun block and avoiding tanning beds. 

Unfortunately, not all melanoma is a result of sun exposure. there is also a strong genetic component, Mercurio said. “Even the most vigilant sun-avoider is at risk, especially if they are fair-skinned, freckle easily and have red or blonde hair.”

Although she said the study’s findings were compelling, she cautioned it’s not clear how much vitamin a might bring a benefit.

“We don’t know yet the optimal dosage,” Mercurio said. “Further studies will clarify how much vitamin a in the form of a supplement would be of benefit for melanoma prevention.” 

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“It is the leading cause of school absences among children,” McKinley said, adding that missed work hours, as well as prevention and treatment efforts for asthma, makes the disease very costly for Americans. Costs have been on the rise for at least the past decade.

“It’s a chronic disease that doesn’t go away,” she said. “And there is no cure for it.”

McKinley and Intermountain’s Dr. Alyson Edmunds, also a pediatric hospitalist, will be featured during Saturday’s Deseret News/Intermountain Healthcare Hotline, where they will take questions about RSV and pediatric asthma and provide advice free of charge. From 10 a.m. until noon, people can call 1-800-925-8177 or post questions on the Deseret News’ Facebook page, facebook.com/desnews.

Asthma is a disease of the respiratory system that affects everyone differently. it is typically caused by genetics and/or environmental factors. Attacks, in which a person cannot draw in enough air, can be triggered by any number of things, including a virus, air pollution, dust and animal dander, second-hand smoke, mold and mildew and even insects and cockroaches in a person’s living space.

The goal, McKinley said, is to identify those triggers and keep airways from becoming inflamed in the first place, thus preventing attacks and maintaining a normal lifestyle as much as possible.

Treatment and management of the disease is much the same for adults as it is for children, however in small children, good habits need to be encouraged early on. Physicians have a number of tools to help children with asthma to develop a plan of action. the plan often includes identifying when a rescue inhaler, containing the broncho-dilator albuterol, is necessary, as well as when triggers are present and affecting their airways.

Children older than 5 years of age can participate in pulmonary testing to determine their level of control of the disease. It’s typically a good sign if asthma attacks are rare.

Symptoms that end up being persistent, such as coughing, wheezing and shortness of breath, as well as fatigue or irritability, usually lead to the need for long-term medication or more intense treatments.

The ultimate goal, however, is to avoid hospitalizations and having to fight for air.

13 March 2011 last updated at 20:09 ET Share this page Laurie Whelan: Helping further cancer research

When Laurie Whelan's brother "bullied" him into going for a prostate cancer check, the retired scientist was unconvinced.

Despite both his brothers having been diagnosed with the cancer, he had no obvious symptoms and did not believe it could happen to him.

Even his GP was sceptical, telling him the condition did not run in families.

But, as Laurie was to learn for himself, we now know that's not the case.

What is more, Laurie, and his three sons are helping to track down the genetic flaws that give some men a higher chance of developing the disease.

They are taking part in a new study to investigate whether we have enough knowledge of the genetics of prostate cancer to screen men with a strong family history.

Laurie's son Tim, aged 49 and from London, says: "there aren't that many people with such a strong family history

"It's one of those diseases that because it's a bit embarrassing, no-one knows about it. when my dad asked me to join the study I was happy to help."

Prostate cancer – the most common cancer in men – has cast a shadow over two generations of the Whelan family.

Both of Laurie's brothers were diagnosed with the condition in their fifties. they later died from unrelated conditions.

It was Laurie's younger brother, who was diagnosed in 1997, who persuaded Laurie to see his GP.

"My brother told me it was likely to be genetic and to get tested. he bullied me – so I finally got the test and I did have it."

The cancer was already fairly advanced, and surgery was not an option. so he was given hormone therapy in a bid to shrink the tumour, followed by radiotherapy.

Laurie is now 82, and in good health.

When he was invited to take part in the study, he had no hesitation.

"I'm very pleased to take part in it," says Laurie, who lives in London. "it is a good thing to help further the cause.

"also I am being monitored more closely than I otherwise would."

Like other participants in the study, he has had his DNA tested for the 31 known genetic variants linked to a higher risk of prostate cancer.

Having one of these genes gives only a tiny added risk, but when combined they can add up to higher risks.

Professor Ros Eeles from the Institute of Cancer Research is leading the study, known as PROFILE.

She says: "this study will show us whether we have enough knowledge about prostate cancer genetics to help find men at higher risk of the disease, and whether we should therefore start screening these men.

"Screening men at higher risk could potentially lead to earlier diagnoses, which would improve their chances of a cure."

Men taking part in the study give a blood sample, from which DNA is extracted.

Scientists then screen for genes known to raise the risk of prostate cancer.

Men with a higher risk are offered a biopsy to check for cancer. they also have a blood test to look at levels of prostate specific antigen – PSA.

The aim is to see whether genetic profiling can help give a better picture of men at high risk of prostate cancer, when combined with the current screening method of a PSA test and sometimes a biopsy.

The PROFILE study is open in London, and will eventually be extended to Oxford and Cambridge. Men aged between 40 and 69 with a family history of prostate cancer are invited to apply. More information is available on the Everyman Male Cancer Campaign website.

Asthma is a lung disease characterized by inflamed airways that connect to the lungs. because of this inflammation, air isn’t able to travel through these airways and therefore makes it very hard to breathe. This will cause asthma sufferers to try even harder to get air in their lungs, which results in coughing and wheezing.

There are several reasons why the airways could have inflammation. Asthma sufferers are allergic primarily to specific substances. not every patient is allergic to the same thing. Allergies may be caused by heavy pollution, cold air, pollens, and dust. Other triggers of asthma include stress and tension. Occasionally, the inflammation of the airways will diminish by itself and not require treatment at all. Though, if the symptoms continue then applying treatment is safe.

the number of people with the disease is on the rise, and the reasons why could include more and more pollution and lifestyle changes . while all ages are affected, children and teenagers are most likely to get it. Allergies and genetics are the primary causes for asthma in children.

the triggers of asthma are different for each case, so identifying them is important for each patient so they can avoid being exposed to them. For those who have cold air as a trigger, you will normally be impacted by it during the early morning or at night when the temperatures are cooler. When pollens are a trigger, then asthma attacks can occur when certain flowers are being planted.

Understanding the asthma symptoms is important in the early stages. if asthma is not treated in a timely manner, then the patient’s life could be in jeopardy. having access to medicine is vital just in case an attack occurs. an inhaler is the most common treatment, and either the patient or someone around must have it especially when participating in sports or exercise. the symptoms should not be allowed to persist.

Asthma patients must take their medication when required. Cortisones should be avoided as the side effects can be very harmful. Always see a doctor first before proceeding, and try to stay with one doctor.

Yoga and breathing exercises are also helpful toward living a healthy lifestyle as it will decrease the possibility of having an asthma attack.

See Also: Signs of Asthma in Children, Preventing Asthma Wheezing, Asthma and Acid Reflux

Knowing your family medical history can be live-saving. one middle Georgia family realized the importance first hand, when genetic testing revealed a rare syndrome passed down the family line.

“My youngest daughter who was 21 at the time had polyps. they found about 3 polyps. one was about 10 times larger than anything that my twenty three year old daughter had. Eventually she had to have her colon removed as well, but she had no symptoms at all,” said Katrina Martin from Macon.

Martin remembers the shock of finding out her 23-year-old daughter Laura was having severe colon and rectal problems. Laura’s symptoms may have saved her sister’s life because Rebecca was symptom free at the time her screening showed polyps growing inside of her.

“The girls were in their twenties and so there really isn’t a screening for someone in their twenties unless you have a family history or unless you’re having problems and at the time we had no idea we had a family history of this disorder,” said Martin.

Colorectal surgeon, Doug Brewer, says the whether your a physician or patient, family history and genetics information are more important than ever in the medical field.

“If you see that there is cancer that involves more than one generation or if you see cancers that are occurring in people that are young, below 50 in general. It increases the likelihood that there is a genetic component running through that family and they just need to go talk to their doctor about that,” said Brewer.

After their daughters health problems surfaced, Katrina Martin and her husband wanted more background information on why their daughters had this disease so they went to the Huntsman Cancer Institute and received genetic testing. The results were shocking, both of them have Lynch Syndrome which can cause a number of different cancers and the condition passed down to their daughters.

“Unfortunately we didn’t know this was in our family but for generations to come we’re aware of it now. You need to educate yourself. You need to go out once you’ve been told that this may be something in your life then go out and educate yourself and identify some resources,” said Martin.

Genetic testing can be as easy as a mouth swab or a blood sample. Dr. Brewer said a common misconception with genetic testing is that a person would be fired from their job or lose their health care. Brewer says that federal and state laws prohibit these actions that have genetic discrimination.

Valentine’s Day. Hearts are everywhere, in the stores, on thetelevision and in our minds. unfortunately, not everyone’s heart isso healthy.

Heart disease affects millions of people and is the leadingcause of death for men and women. February is American Heart Month,and it’s a good time to remind people of their risk of heartdisease.

Diet, exercise and genetics all play an important role in howsevere someone’s heart disease becomes over his or her lifetime.there are always exceptions, but the more healthy your diet and themore healthy your lifestyle, the less likely you will havesignificant heart disease in the future.

When fatty deposits called plaques begin to block the lining ofthe arteries, narrowing of the vessels occurs, and blood cannot getthrough to the heart muscle.

The body will try to make blood flow smoothly by coating theseplaques with a thin lining of cells. However, when the vesselsconstrict, that lining cracks, which the body senses as aninjury.

The body responds by sending cells such as platelets to makerepairs. These cells block the vessels even more, furtherdecreasing blood flow, causing the heart tissue to get less oxygenand nutrients, and leading to chest pain.

This chest pain means that tissue is dying, and it signals thatthe patient should get medical attention quickly.

One of the symptoms of a heart attack is pain or discomfort thatfeels like pressure or squeezing in the center or left side of thechest. It may radiate into the jaw like a sore tooth, or to the armand shoulder. It usually lasts more than a few seconds and can last20 to 30 minutes or more.

Shortness of breath is sometimes associated with this pain.sometimes the patient can be nauseated, have cold sweats, and bepale or lightheaded. usually it occurs during exertional activity,but it also may be brought on by significant stress.

Unfortunately, heart attack symptoms may not be exactly asdescribed; the pain may be sharp, may not radiate, or the patientmay not have nausea. or it may feel entirely different, like afeeling of indigestion after eating or going for a short walk.

If you think you are having a heart attack, call 9-1-1. Don’tdrive yourself to the hospital, and don’t have someone else driveyou, either.

Stop whatever you are doing and sit down. take an aspirin if youare not allergic to it. It tastes bad, but chewing the aspirinhelps it get into your system faster.

The ambulance and the hospital will do an EKG — a heart tracingthat allows the doctor to see what damage is being done. they willgive you medications, such as nitroglycerin to help relax thevessels of the heart. they will decide if you need clot-bustingdrugs, a catheterization of the arteries to clear them, or to beadmitted and see a cardiologist for further workup.

Hopefully, you will not have any of these experiences, and theonly heart problem you will have is finding someone to be yourvalentine. but in the meantime, get regular exercise, eat a lowsalt and low fat diet, and don’t smoke. Your heart will thankyou.

Dr. Mark Levine is a Washington University emergencydepartment physician at Barnes-Jewish Hospital.

The new genetic approach could make the PSA screening test for prostate cancer more accurate. (CBC)

Scientists have taken a first step toward improving problematic PSA tests for prostate cancer, by mixing in some genetic information that might help tell which men really need a biopsy.

The widely used blood tests measure a protein named PSA that only sometimes signals prostate cancer is brewing. a patient’s PSA level can be high for other reasons, but doctors order a biopsy to check for a tumour whenever PSA reaches a certain level.

Now scientists have discovered a set of genetic variants that show those cutoffs may be skewed for some men because their normal PSA level is naturally much higher than the average that PSA testing was based on.

That means “you end up biopsying a lot of prostates that did not need any biopsy,” said Dr. Kari Stefansson, chief executive officer of deCODE Genetics in Iceland.

His team reported the findings Wednesday in the journal Science Translational Medicine.

Stefansson said he plans to develop a test for those genetic markers, perhaps later next year, in hopes that doctors could use the information to customize how they read and react to their patient’s PSA test results.

This genetic approach makes sense but “I don’t think that this test is ready for prime time” without more research to confirm the findings, cautioned Dr. Otis Brawley, chief medical officer of the American Cancer Society, who wasn’t part of the study.

“It’s important, but it’s a small step in the long road ahead” for better prostate cancer detection, he said.

Finding deadly cancers

Making a PSA test more accurate solves only part of the problem, Brawley stressed. Screening often detects small prostate tumors that will prove too slow-growing to be deadly, but there’s no sure way to tell in advance who needs aggressive therapy.

“What we desperately need is some type of test … that tells us, this is the kind of prostate cancer that kills versus the kind of cancer that doesn’t kill,” he said.

More than 190,000 cases of prostate cancer will be diagnosed this year in U.S. men, and it will kill about 27,000. but routine screening is highly controversial: while most men over 50 have had at least one PSA test, many major medical groups don’t recommend them over fears they may do more harm than good.

The cancer society, for instance, advises that men be told of the pros and cons of the test and decide for themselves.

Among the problems: more than a third of men with PSA levels of 10 or more have no evidence of prostate cancer at biopsy, and many doctors order a tumour check at levels lower than that, around four. Conversely, some men with very low PSA levels wind up with cancer.

Stefansson’s team discovered a set of genetic variants that alters how much PSA, or prostate specific antigen, men naturally produce.

The team reported that men who bear any of three of those variants had PSA levels about 40 per cent higher than average men. When they examined the records of nearly 4,000 men in Iceland and Britain who underwent prostate biopsies, those high-PSA producers were more likely to have had an unnecessary biopsy.

Conversely, men with a fourth variant had PSA levels about 40 per cent lower than average.

Roughly five per cent of men fall into each category, Stefansson said.

What does that mean? if a doctor usually orders a biopsy for a PSA of four, a high-PSA producer might not need one until reaching almost six, Stefansson said. but a low-PSA producer might need one sooner.

The Canadian Cancer Society suggests men over 50 should talk to their doctor about getting tested for prostate cancer. it also suggests that if you are over 40 and have a higher risk of developing the disease, you should talk to your doctor about getting tested.

But for healthy men with no symptoms of the disease, the Canadian society notes there are no recommended screening tests.