New 'asthma gene' could lead to new therapies

A gene that is strongly associated with a risk of developing childhood onset asthma was identified by an international team of scientists, whose findings are published today in the journal Nature.

According to Eurekalert, the news service of the American Association for the Advancement of Science, in a genetic study of more than 2,000 children, scientists from the University of Michigan and colleagues from London, France and Germany found genetic markers that dramatically increase a child's risk for asthma. These markers are located on chromosome 17, and children with this marker had higher levels of a new gene called ORMDL3 in their blood, which occurs in higher amounts in children with asthma. The presence of the disease-associated version of ORMDL3 increases the risk of asthma by 60-70 percent, the study suggests.

"In terms of an asthma gene, there have been quite a few reports but not one that can be clearly reproduced in samples," said Goncalo Abecasis, associate professor at the U-M School of Public Health. "I think eventually it will lead to new therapies because it points to a specific biological molecular pathway. Once we understand the biology and we know the players, it's possible to target with specific drugs."

Childhood asthma treatments are heavily focused on allergic responses, since most children with asthma also have many allergies. The discovery of a so-called 'asthma gene' would provide a new set of mechanisms to try and modify and manage childhood asthma, Abecasis said.

"Before we finished the paper, we would have guessed (ORMDL3) would be a gene with a well-understood role in allergic responses, but that is not what we found," said Abecasis, noting that the gene has no known relation to allergic responses.

Asthma, a complex disease caused by a combination of genetic and environmental factors, is the most common chronic disease of childhood. Asthma occurs in 7-10 percent of children in the United States and one child in seven in the United Kingdom. Its prevalence differs widely among different geographic areas.

To account for the environmental factors associated with the disease, researchers structured their investigation to ensure that cases of childhood asthma were matched to children without disease from the same geographical areas.

The team of scientists, including Liming Liang, a U-M doctoral student in Abecasis' lab and co-first author on the paper, compared the genetic makeup of 994 patients with childhood onset asthma and 1,243 non-asthmatics. They looked at mutations in the building blocks that make up DNA, called nucleotides. There are mutations in around one in every 600 nucleotides, and scientists examined more than 317,000 of these mutations, known as single-nucleotide polymorphisms, to find those specific to childhood asthma. The researchers also looked at how genes were being expressed within human blood cells. The U-M was one of the major data analysis sites.

The team confirmed its findings by analyzing the genetic makeup of more than 2,000 children from Germany and more than 3,000 subjects from the United Kingdom born in 1958 and monitored until now for the presence of disease.

"This is a large study involving doctors and scientists from many countries, and we are confident that we have discovered something new and exciting about childhood asthma," said Dr. Miriam Moffatt of the National Heath and Lung Institute, Imperial College, London, and one of the first authors of the study. "These novel findings do not explain completely how asthma is caused, but they do provide a further part of the gene-environment jigsaw that makes up the disease. We and our colleagues are currently preparing even bigger studies to find other genes of smaller effect and to relate these to environmental factors that increase asthma risk."

Professor William Cookson, also of the National Heart and Lung Institute and coordinator of the study, said the results are the strongest genetic link yet to child onset asthma.

source:www.hindu.com

KENT SEPKOWITZ casts doubt on the medical profession's conventional wisdom

As an infectious-disease specialist, I could go each year to the meetings of the Infectious Disease Society of America in September; the Interscience Conference on Antimicrobial Agents and Chemotherapy in October; the Conference on Retroviruses and Opportunistic Infections in February; the Society for Healthcare Epidemiology of America in April; the American Society for Microbiology in May; and, every other year, a summer international conference on AIDS. If I want to focus on AIDS in particular, I could add several more.

Is the pace of medical discovery really so blistering that only a circuit of nonstop meetings can accommodate the headlong rush of new information? Or is the constant conference part of the drug companies' scheme to hypnotize the doctor class and create a fleet of medical Manchurian candidates?

More salient, probably, is the oddly powerful urge to convene; the surest evidence of professional probity in America is attendance at an annual meeting. Profession by profession, we've become a Meetings R Us collective in which no one can speak without the authority of the group and no group can speak without the authority of a members vote.

So, doctors are suckers like everyone else. Other than wasting some time, does it much matter? Well, yes.

The medical convention is bad for doctors, bad for patients and bad for everyone in between. The state of constant meetings has introduced to medical work the same false urgency that 24-hour news has imposed on the production and presentation of news. With the rare exception of a true calamity (anthrax, AIDS, West Nile, mad cow), we don't have enough to talk about. So we sex up the facts to create the next urgent crisis. It's all vigilance, all panic, all the time.

This is easy enough. There is pandemic flu and avian flu and resistant bacteria and always AIDS, the mumps, measles and tuberculosis in its old and new strains. In the end, we don't even have to exaggerate much.

But other than AIDS, they are not grand-scale public health crises, at least not right now. Diagnosing and managing these infections is what infectious-disease doctors do. And we should do it methodically, carefully, quietly, in a way that respects the natural pace of science – its fits and starts, in which a step forward is followed by two steps back when the "breakthrough" is reconsidered.

The 24/7 conference treadmill has warped the necessary deliberative (though often boring) medical discourse. At the meeting, hyperventilation takes over. Never mind all the past letdowns. Like the Democrats and Republicans every four years, we are certain – certain – that this meeting will prove to be the one we can't afford to miss.

To be sure, there is a role for humans congregating with other humans, even in the day of conference calls and e-mail. The wizened get to see old friends. Newbies can stand timidly at the edges and envy the vets' camaraderie. And in 20 years, I have been at a few genuinely hair-raising meetings.

The early AIDS conferences were a source of drama and genuine awe. And the urgent need for information, spit out as fast and to as many people as possible, made perpetual meetingdom necessary. This harks back to the 19th century, when medical meetings were critical. Robert Koch announced his findings on the bacterial basis for tuberculosis at one. Louis Pasteur and Joseph Lister presented theirs, redefining the worlds of bacteriology and infection. Their results, and those of other era brand names, were sometimes met with derision, at other times with acceptance. Either way, meetings were where medical progress happened.

source:www.dallasnews.com

Zambezi Fish Disease Mystery Cracked

Scientists have identified the mystery disease that killed fish in parts of the Zambezi River last year.

Researchers have identified the disease as Epizootic Ulcerative Syndrome (EUS), caused by a fungal pathogen. Infected fish develop large sores and die from secondary infections.
The researchers say this is the first known outbreak of the disease in Africa.

But they still don't know how the pathogen got into the Zambezi, which flows through eight southern African countries.

EUS also affects fish in Australia, the United States, and many countries in Asia. When EUS broke out in Asia in the 1970s, approximately 80 per cent of the fish population perished.

In December last year fishermen in Namibia reported finding sores on fish caught in the Zambezi (see Deadly infection hits Zambezi fish). The government imposed a two-month ban on fishing to safeguard the public. A similar ban was imposed in Botswana, and was only lifted at the end of March this year.

Shaft Nengu, a member of the research team and Botswana's assistant director of fisheries, said the spread of the disease downstream is inevitable. The research team has warned that the disease could become pandemic, damaging aquaculture, fisheries and aquatic biodiversity.

"We do not have the capacity to establish the extent of the outbreak. We are trying to come up with a regional effort to respond to this outbreak and have written to all countries that share the Zambezi River to support this initiative," Nengu said.

Nengu said the fungal pathogen does not pose any human health implications, but that fish exhibiting sores, which could harbour secondary infections, should still be treated with caution.

Zimbabwean microbiologist Percy Chimwamurombe said that it is "presumptuous" to say that people will not be affected, and a coordinated regional response is essential to determining the extent and effects of the outbreak.

"There is need for a concerted public awareness campaign given the possibility of secondary infections, which can be terrible," he said.

Fish biologist Ben van der Waal, from the Integrated Management of the Zanbezi/Chobe River System Fishery Resource Project and also a member of the research team, said there was nothing anybody could do to eradicate the outbreak now that it was in a natural setting.
He warned that fish losses during the first few years of the outbreak may be colossal, and that it would take many years to adapt to the disease.

"In Asia it took about 20 years for the outbreak to go down to endemic levels," he said.

The team of scientists included experts from the United Nations Food and Agriculture Organization, Thailand's Inland Aquatic Animal Health Research Institute, and the Network of Aquaculture Centres in the Asia-Pacific.

SOURCE:allafrica.com

disease 'could raise the risk of cancers'

A painful womb condition affecting two million women could raise the risk of cancer in sufferers, a study has shown.

Endometriosis increases the chances of developing ovarian and some other cancers by around one-third.

The risk of brain tumours, skin cancer and breast cancer also goes up, according to the research published yesterday.

There is no cure for endometriosis and it can make sufferers infertile – and women can wait up to nine years for a correct diagnosis.
It affects up to a quarter of women of reproductive age, with singer Louise Redknapp and TV presenter AntheaTurner among sufferers.

Endometriosis causes cells found in the womb lining to attach themselves to other parts of the pelvic area.

This causes internal bleeding in the pelvis that leads to pain, inflammation, lesions, scar tissue and infertility.

Doctors at the Karolinska Institute in Stockholm looked at data from 63,630 women discharged from hospital with endometriosis between 1969 and 2002.

They found almost 4,000 cases of cancer among the women and analysed the extra risk linked to different types of cancer.

The risk of developing ovarian cancer rose by 37 per cent compared with women who did not have endometriosis.

There were similar increases in risk for endocrine tumours (38 per cent), kidney cancer (36 per cent)and thyroid cancer (33 per cent).

The chances of developing brain tumours went up 27 per cent and for skin cancer the increase was 23 per cent, with breast cancer risk rising by eight per cent.

Details from the study were released yesterday at the annual meeting of the European Societyof Human Reproduction and Embryology in Lyon, France.

Dr Anna-Sofia Melin who led the study said they did not know how the disease can lead to an increase in cancers.

One suggestion is that defects in the immune system that allow the endometriosis to grow also might allow cancer cells to grow.

"Maybe the treatment of endometriosis, hormonal or surgical, can influence cancer development. We do not know yet," she said.

A survey of sufferers discovered the average time to get a diagnosis was nine years.

Half of women said their GP and the medical profession did not take the condition seriously.

Dr Melin said: "Our hope is that doctors in general start to view endometriosis as a serious disease that causes a lot of suffering to the patient and also may lead to cancer."

Mary Lou Ballweg, of the Endometriosis Association, said:

"Many doctors, and even women, don't take the pain seriously. Women need to be seeing a specialist to ensure they are getting the best possible help."

source:www.thisislondon.co.uk

Disease outbreak alarms Montana's ranchers

The future of Montana's cattle industry, some say, is in the hands of the federal government and a Bridger ranching couple.

Ranchers and livestock groups from the state and around the country are anxiously watching negotiations between Jim and Sandy Morgan and the U.S. Department of Agriculture's Animal and Plant Health Inspection Service over the couple's quarantined cattle.

Seven cows from their ranch tested positive for brucellosis in May, and Montana could lose its coveted brucellosis-free status if the Morgans' herd isn't slaughtered within 60 days of that discovery — which is July 17.

Concerns are mounting that a deal won't be reached in time.

State Sen. Bob Story, R-Park City, raised the issue at an Environmental Quality Council meeting last week, and state Board of Livestock members peppered acting state veterinarian Jeanne Rankin with questions during a conference call Tuesday.

"We're looking at a timeline here, and the board needs to know what steps to take if negotiations fall apart," board chairman William Hedstrom told Rankin.

Board members plan to meet again this Wednesday for an update and to "take some kind of action" if a deal isn't brokered, he said.

"It's making me really nervous," Hedstrom said of the negotiations.

Hayley Carraway, communications manager for the Montana Stockgrowers Association, said the state's brucellosis-free status is critical to its livestock industry. Losing it would cost producers business in other states and subject them to expensive testing and vaccination programs, possibly for years.

Brucellosis, which causes pregnant cows to abort their calves, was widely eradicated from livestock last century but has persisted in wildlife such as elk and bison. Recent outbreaks in Idaho and Wyoming have cost livestock producers there millions of dollars.

Montana is now on probation for two years and will lose its brucellosis-free status if any further cases turn up during that time.

source:seattletimes.nwsource.com

Test for Kidney Disease could also warn of potential Pre-diabetes

A blood measurement of cystatin C, which is used for testing for early-stage kidney impairment, could also be a warning flag for a person developing pre-diabetes. A study by the University at Buffalo reported that persons with high levels of cystatin C had a three-fold risk of developing pre-diabetes. The researchers first reported their study in the July 2007 issue of Diabetes Care.

Pre-diabetes is diagnosed when fasting blood glucose levels are over 100 and under 126. Pre-diabetes is important to treat before it becomes a permanent Type 2 diabetes, which is known to increase problems with heart disease, stroke, kidney failure, blindness and nerve damage.

“It’s important to identify people at risk of pre-diabetes very early, because you can prevent this condition from developing by making changes in diet and lifestyle,” said Richard P. Donahue, Ph.D., first author on the study.
Cystatin C is also sometimes called Cystatin 3 or CST3 and is a serum protein that is used to measure glomerular filtration rate of the kidneys. This test is a more precise test of kidney function than the standard creatinine test.

“If further studies support our finding, testing for cystatin C could become an important part of a standard physical examination. Preventive measures could be in place before glucose intolerance has a chance to develop and take its toll.”

“Pre-clinical signs of renal impairment may occur before or coincident with pre-diabetes,” Donahue said. “These findings may suggest that those who have pre-diabetes also should be screened for early signs of kidney impairment, which itself is a major chronic illness and cause of much morbidity and mortality.”

source:www.bestsyndication.com

Plano woman makes greeting cards inspired by struggle against disease

Sitting in her Plano living room, Emily Nitz Woods speaks slowly and deliberately about her long road and how it led her into the greeting and inspirational card business.
Ms. Woods has survived a risky stem-cell transplant to combat scleroderma, a chronic autoimmune disease that hardens the skin. It can be life-threatening if it attacks internal organs.

Ms. Woods' emotional struggles prompted her to display the word "believe" prominently in silver block letters in her living room. Her cards are a means of spreading the positive message.

Ms. Woods' life changed dramatically in 1999, when she was 29. She had poor circulation, stiff joints and tightening skin. Then she received the diagnosis: scleroderma.

About 300,000 Americans have the disease. At first, she could function normally, but with limited range of motion. But her symptoms worsened about four months after the birth of her daughter, Emma, in 2002.

"By the end of 2003, I couldn't feed myself. My skin was so tight that my elbows wouldn't bend," she remembered.

Instead of being inconvenienced by scleroderma, she was becoming disabled. She required assistance dressing and walking. She and her husband, Kevin, hired a full-time nanny to care for Emma.

Her physical decline continued despite traditional drug therapy. She turned to the Internet to research options.

"Even though I wanted to educate myself, it was depressing and so it was kind of a Catch-22," she said.

She knew enough of the disease to know what lay ahead. And she saw her symptoms worsening week by week. The worst part was her inability to care for Emma.

"I didn't want her to grow up without a mother," Ms. Woods said.

Her research led her to Northwestern Memorial Hospital in Chicago, where she received the transplant as a last-ditch effort.

The stem cells were drawn from her bone marrow and preserved while she received chemotherapy. Then, the stem cells were transfused. Temporary kidney failure caused a delay in her return home and prolonged the separation from her daughter.

"I just felt so isolated from the life I knew before," she said.

As a student, she was a record-holding springboard diver. As a young adult, she was a champion horse rider. Because of the disease, she needed help with basic tasks.

But the transplant was a turning point. Within six months, there was vast improvement.

During occupational therapy and healing, she discovered a need to find meaning in her survival.

"I wanted something to relay the emotions I went through, the things I've learned – that there is hope and not to give up," she said.

Dream On Media was born. Ms. Woods shares her thoughts in greeting and inspirational cards.

"They are meant to inspire and encourage," she said. "I wanted something I could sell and give back to the [Scleroderma] Foundation and hopefully find a cure."

Now, she and her husband are divorced, and she's a single mom caring for Emma. Her hands are slightly curled, and her limbs have a purplish cast. But with softened skin and a renewed ability to get around unaided, she is optimistic.

"I think that frame of mind has a dramatic effect on your situation. If you live it, believe in it and think it, you can help that process along. I feel that has helped me get to where I am today."

source:www.dallasnews.com

The potential dark side of genetics

For $1,000, you soon will be able to purchase the text of your own DNA -- the unique sequence of your genetic inheritance. You can get the information, that is, unless you're Russian. President Vladimir Putin has just announced a ban on the export of all human medical biological materials. He is worried that his citizens' genetic data could enable Western scientists to make ethnic-specific biological weapons for use against Russians.

These two unrelated developments, reported almost simultaneously in recent days, speak volumes about modern bioscience and the emerging security paradox that humanity faces.

On one hand, with your own genetic sequence, you (or your physician) could check your genetic profile whenever a new genetic link to disease is discovered. Are you at a particular risk for cancer or Alzheimer's disease? Your DNA will not tell you if you have a disease, but it can tell you whether you should be tested. If you have a higher genetic risk of diabetes, you might want to pay close attention to your sugar intake.

As more conditions are linked to genes (various addictions, for example), people in high-risk categories might want to adjust their lifestyles to avoid potential dangers. Young lovers, looking at a possible mate, might want to temper their passion with data about potentially inheritable diseases.

On the other hand, with genetic testing of particular ethnic groups, it's getting easier to observe unique markers that are carried disproportionately by members of a group. With that information, a weapon could be conceived to target that marker, perhaps causing a specific disease to which that group is excessively susceptible. It will soon be possible to manipulate viruses or bacteria so that they predominantly affect only Jews or Han Chinese or, yes, Russians. Even if that weapon affected only 10 or 20 percent of a group, the effects could be devastating.

Far-fetched? Decades ago, when bioscience was comparatively ignorant of such things, the South African apartheid regime tried to concoct drugs to render black women infertile. Throughout the Cold War, the Soviets produced synthetic diseases that could overcome immunization and evade the body's defenses. Many bioscientists agree that ethnic-specific weapons are scientifically possible, if not now then soon.

It is important to stress that there does not now appear to be any independent confirmation of Putin's fears. Perhaps his decision is a ploy to protest plans for missile defense in Europe, or perhaps he's just been frightened by an exaggerated intelligence report. Whatever his motives, however, his concerns should not be idly dismissed.

What is certain is that the amazing progress in bioscience that offers truly vast benefits to humanity necessarily opens new possibilities for horrifying weapons. The same science that identifies how diseases can be stopped can identify how those diseases exploit human vulnerabilities. To learn how to defeat disease is to learn how it works. Techniques that generate life-saving progress are the same techniques that could generate catastrophe.

So, how should we greet these two stories about access to genetic information?

The leading bioresearch institutes and biotech companies have done nothing to suggest any malevolent intent. By and large, they appreciate potential risks and proceed with admirable care. But here's the rub: If anyone actually decided to make an ethnic-specific weapon, are there laws in place to prevent a catastrophe? Are there controls to ensure that information about ethnic-specific genetic traits is kept away from terrorist organizations? The answer must be an emphatic no.

Today, there is too much that is unknown about bioscience. We do not know where every well-equipped laboratory is, and we have inadequate systems for tracking the movement of pathogens and equipment. There are grossly deficient capabilities for putting information together to give law enforcers the best chance to stop evil applications of emerging techniques. In many parts of the world, a terrorist or criminal group could prepare bioweapons without substantial risk of detection and could inflict unimaginable damage against unprotected populations.

The scientists who are working to reveal our genetic makeup deserve high praise -- their work will no doubt save lives. But it is an unavoidable paradox that their work could be misused. Putin's fears, even if unsubstantiated, should draw attention to the fact that our trust in science's benevolence is not misplaced -- it's just inadequate.

source:www.sfgate.com

Junk food, transfats could cause blindness

Alarming new research has revealed a poor diet can lead to the eye disease macular degeneration, which causes blindness in later life.

In recent years, MD numbers have skyrocketed and now the disease affects a staggering one in seven Australians over 50 - about 850,000 people.

The disease causes progressive damage to the central part of the retina, the light-sensitive tissue at the back of the eye which enables people to see detail clearly.

Poor nutrition reduces the levels of antioxidants in and around the eye's retina and enables waste products caused by fatty foods to damage the eye.

Specialists say MD used to only affect people in their 70s, but now they are seeing people as young as 40 suffering from it.

Leading optometrist Allan Ared, a Sydney specialist with clients in Queensland, said transfats in processed foods were a significant risk.

"Macular degeneration is a modern-day epidemic, but if you look back 100 years, we never had a problem with this disease," he said.

"It's only in the last 10 to 15 years that experts even became aware of what MD was.

"What's happened is processed foods have altered our nutritional intake and we are now eating foods every day that our ancestors only ate on special occasions.

"That bag of chips you eat today may certainly impair your vision tomorrow."

Experts advise people to eat vitamin C, vitamin E and zinc, as well as foods rich in antioxidants, such as dark leafy vegetables, citrus fruit, nuts, wholegrains, meat, fish and seafood.

Clinical studies show high-dose vitamin and zinc supplements can reduce the progression of MD by 25 per cent.

Alison Muir, national education co-ordinator for the Macular Degeneration Foundation, recommends people cut down on junk food.

"This disease is increasing and it is partly because we have a lot of processed foods in our diets now," she said.

source:www.news.com.au