Tag Archives: science

Studying autism in girls may help reveal the disorder’s secrets

Think autism and an image of an awkward boy typically emerges, but the way autism strikes girls — or doesn’t — may help reveal some of the developmental disorder’s frustrating secrets.

Autism is at least four times more common in boys, but scientists taking a closer look are finding some gender-based surprises: Many girls with autism have social skills that can mask the condition. And some girls do not show symptoms of autism even when they have the same genetic mutations seen in boys with the condition.

“Autism may not be the same thing in boys and girls,” said Kevin Pelphrey, an autism researcher at George Washington University.

The causes of autism aren’t known. Genetic mutations are thought to play a role, and outside factors including older parents and premature birth also may be factors. But the gender effect is now a hot topic in autism research and one that could lead to new ways of diagnosing and treating a condition that affects at least 1 in 68 U.S. children.

 

WHAT SCIENCE SHOWS

Brain imaging suggests there may be an additional explanation for why many girls with autism have more subtle symptoms than boys, Pelphrey said. Even in girls who clearly have autism, he said, brain regions involved in social behavior that are normally affected are less severely impaired.

Also, recent studies on autism-linked genes have found that girls can have the same kinds of genetic mutations seen in boys with autism, but not show symptoms. They “even need to have twice as many mutations on average to actually manifest with autism,” said Joseph Buxbaum, director of an autism center at Mount Sinai medical school in New York.

He is among researchers trying to identify a “protective factor” that may explain how some girls at genetic risk remain unaffected — perhaps a protein or other biological marker that could be turned into a drug or other therapy to treat or even prevent autism.

That possibility is likely a long way off, but Pelphrey said this line of research has prompted excitement among autism scientists.

 

AUTISM SISTERS PROJECT

Buxbaum is involved in the Autism Sisters Project, which is seeking to enroll hundreds of families with autistic sons but unaffected daughters. The project began last year with the goal of building a big database that scientists can use to look for genetic clues and protective factors. Girls and their families visit the New York lab to give saliva samples for DNA analysis and efforts are underway to expand DNA collection to other sites.

Evee Bak, 15, hopes her samples will eventually benefit her older brother Tommy. The suburban Philadelphia siblings are just a year apart. They play in a garage band — Evee on drums, Tommy on guitar and vocals. He’s a masterful musician, but has trouble reading social cues and doing things that come easy to other teens, like shopping alone or using public transportation.

Her focus is “taking care of Tommy and making sure he’s happy and healthy,” Evee said.

Tommy was diagnosed at age 3, after he stopped using words he’d learned months earlier and showed unusual behavior including repetitively lining up toys instead of playing with them.

“He’s a wonderful person and I don’t think that we’d ever want to change him,” said his mother, Erin Lopes. But they’d welcome anything that could help him function as independently as possible “because I think that’s what he really wants, is to be independent.”

 

MAKING A DIAGNOSIS

Autism is diagnosed by observing behavior, there’s no blood test for it. Some experts say gender-based differences highlight a need to develop different ways to evaluate boys and girls.

Autism screening, recommended for kids starting at 18 months, uses tools based on research in autistic boys, said Rachel Loftin, clinical director of an autism center at Rush University Medical Center in Chicago.

One widely used screening questionnaire for parents includes questions like “Does your child play make-believe, make eye contact, seek praise, show interest in other children?” Girls with autism, especially mild cases, often don’t show obvious problems in those categories _ they’re more likely than affected boys to play pretend with toys rather than lining them up by size or shape. Loftin said they’re also more likely to show concern for another person’s feelings.

Government data show that all forms of autism, mild to severe, are more common in boys and that the average age at diagnosis is 4 years in boys and girls. But Loftin said anecdotal evidence suggests a two-year lag time in diagnosis for girls, especially those with mild cases. And she suspects many cases are missed or misdiagnosed. That means a delay in early intensive behavior therapy that is the main treatment for autism.

Some girls manage to camouflage symptoms until pressures to fit in at school become overwhelming, delaying diagnosis until around age 8 or 9, said Alycia Halladay, chief science officer at the Autism Science Foundation, a nonprofit educational and research-funding group which is paying for the Sisters Project.

The prominent autism advocate, professor and author Temple Grandin wasn’t fully verbal until age 4.ß “It was obvious something was drastically wrong with me,” Grandin said. But she said she learned to adapt, in part because with “1950’s parenting” she was faced with intense encouragement to develop social skills and other talents.

 

PARENTS’ CONCERNS

Allison Klein worried about her daughter, Jillian, for three years before the little girl was finally diagnosed with mild autism. Jillian couldn’t tolerate loud noises, she grew withdrawn around her preschool classmates and she lagged behind academically. She was labeled anxious, not autistic.

“She didn’t meet the stereotypical behaviors of no eye contact, no communication, hand flapping,” Klein said. Teachers and doctors suggested she was just shy and would grow out of it.

A few months ago, just before Jillian turned 6, Loftin confirmed Klein’s concerns.

Even Pelphrey, the autism researcher, had a similar experience. His daughter, Frances, was diagnosed almost four years after her behavior raised concerns. She didn’t walk or talk until she was almost 3 years old. She tried to be “cuddly” and interact with others, but sometimes she did so awkwardly.

“Nobody really wanted to make the call,” Pelphrey said. “Had she been a boy, there would have been much more pressure to look into it.”

 

On the Web

CDC & Autism: http://tinyurl.com/zarznp2

Biden: Progress on ‘moonshot’ to find cancer cure

 Vice President Joe Biden said this week the White House’s “moonshot” to find a cure for cancer has been making real progress in the past year, but more needs to be done as the nation prepares to elect a new president.

Speaking to a crowd of hundreds of health care professionals and researchers gathered in Boston, the 73-year-old Democrat touched on a range of initiatives the “Cancer Moonshot” task force he chairs has been working on since President Barack Obama announced the effort in his final State of the Union in January.

Biden, who lost his son, Beau, a former Delaware attorney general, to cancer last year, said the administration is trying to speed up the federal drug approval process and make it easier for cancer patients to take part in clinical trials.

He also said the administration is encouraging cancer researchers to share more information among themselves, something that he says doesn’t happen as much as it should.

“We’re just getting started,” Biden said. “We’re on the cusp of enormous, enormous progress.”

He said more work also needs to be done to enhance cancer prevention and detection efforts, particularly among disadvantaged populations.

“This country has the capacity to do anything it sets its mind to,” Biden said. “We’re on the verge of some astounding breakthroughs, I promise you. Stuff that will absolutely take your breath away.”

Biden chairs a task force comprised of the heads of at least a dozen federal departments and agencies, including the National Cancer Institute, the National Institutes of Health and the Department of Health and Human Services.

The task force aims to double the rate of progress in cancer research and treatment, accomplishing what could be achieved in ten years in five.

Biden has been making a series of stops since providing the president with a progress report on the “moonshot” effort earlier this week. He told the Boston crowd that he was in New York just hours earlier speaking about the initiative at another event, which was the reason why he was more than an hour late.

Among the dozens of public and private sector initiatives highlighted in the “moonshot” report is a collaboration between Microsoft, Amazon and the National Cancer Institute to build an online repository for cancer genomic data.

The report also mentions commitments from Uber and Lyft to expand free or reduced ride programs to help cancer patients get to medical appointments, and a new study by the Department of Defense to investigate the “biological basis of cancer.”

The report was meant, in part, to serve as a blueprint for future administrations. But Congress has so far yet to approve hundreds of millions of dollars in funding the outgoing Obama administration has sought for the effort.

Biden has promised he’d devote the rest of his life to finding a cure for cancer, though he’s publicly dismissed the notion of working as a member of the next presidential administration on the effort.

Meet Megalolamna paradoxodon: Scientists discover new large prehistoric shark

Megalolamna paradoxodon is the name of a new extinct shark named by an international research team that based its discovery on fossilized teeth up to 4.5 centimeters (1.8 inches) tall found from the eastern and western United States (California and North Carolina), Peru and Japan.

The fossil shark lived during the early Miocene epoch about 20 million years ago and belongs to a shark group called Lamniformes, which includes the modern-day great white and mako sharks.

More specifically, it belongs to Otodontidae, which contains the iconic extinct superpredator megalodon or the megatoothed shark, and as an otodontidMegalolamna paradoxodon represents a close cousin of the megatoothed lineage, said Kenshu Shimada, a paleobiologist at DePaul University and research associate at the Sternberg Museum in Kansas.

Certain dental features suggest its otodontid affinity, but in many other aspects, teeth of the new fossil shark look superficially like over-sized teeth of the modern-day salmon shark that belongs to the genus Lamna — hence the new genus Megalolamna, the researchers noted.

The new species name paradoxodon, or paradoxical teeth, comes from the fact that the shark appears to emerge suddenly in the geologic record with a yet unresolved nearly 45-million-year gap from when Megalolamna possibly split from its closest relative Otodus.

Although smaller than members of the megatoothed lineage containing megalodon that reached well over 10 meters (33 feet), Megalolamna paradoxodon is still an impressive shark, estimated to be minimally equivalent to the size of a typical modern-day great white — roughly 4 meters (13 feet) in length.

Living in the same ancient oceans megatoothed sharks inhabited, Megalolamna paradoxodon had grasping-type front teeth and cutting-type rear teeth likely used to seize and slice medium-sized fish.

“It’s quite remarkable that such a large lamniform shark with such a global distribution had evaded recognition until now, especially because there are numerous Miocene localities where fossil shark teeth are well sampled,” said Shimada, lead author of the study.

In classifying the new fossil shark, the research team also came to a conclusion that members of the megatoothed lineage, including megalodon, ought to be classified into the genus Otodus, and not to its traditional genus Carcharocles.

“The idea that megalodon and its close allies should be placed in Otodus is not new, but our study is the first of its kind that logically demonstrates the taxonomic proposition,” Shimada noted.

The new study is appearing in the international scientific journal Historical Biology.

In addition to Shimada, other authors include Richard Chandler, North Carolina State University; Otto Lok Tao Lam, The University of Hong Kong; Takeshi Tanaka, Japan; and David Ward, The Natural History Museum, London.

Megalolamna paradoxodon, which measured roughly 13 feet in length, is the name of new extinct shark described by an international research team that lived during the early Miocene epoch about 20 million years ago. Megalolamna paradoxodon had grasping-type front teeth and cutting-type rear teeth likely used to seize and slice medium-sized fish and it lived in the same ancient oceans megatoothed sharks inhabited. — IMAGE: Credit: Kenshu Shimada/DePaul University
Megalolamna paradoxodon, which measured roughly 13 feet in length, is the name of new extinct shark described by an international research team that lived during the early Miocene epoch about 20 million years ago. Megalolamna paradoxodon had grasping-type front teeth and cutting-type rear teeth likely used to seize and slice medium-sized fish and it lived in the same ancient oceans megatoothed sharks inhabited. — IMAGE: Credit: Kenshu Shimada/DePaul University

Flood watch: Melting glaciers pose threat beyond water scarcity

The tropical glaciers of South America are dying from soot and rising temperatures, threatening water supplies to communities that have depended on them for centuries. But experts say that the slow process measured in inches of glacial retreat per year also can lead to a sudden, dramatic tragedy.

The melting of glaciers like Peru’s Pastoruri has put cities like Huaraz, located downslope from the glacier about 35 miles away, at risk from what scientists call a “glof” — glacial lake outburst flood.

A glof occurs when the weak walls of a mountain valley collapse under the weight of meltwater from a glacier. Recent examples include the rapid draining in 2013 of a lake at Chile’s Ventisquero glacier in the Bernardo O’Higgins National Park, six years after another, nearby lake essentially disappeared there.

Those sites are in remote, sparsely populated Patagonia. But if the glacial Palcacocha lake collapsed, it could cause a damaging flood, say experts in Peru, sort of like a smaller, modern cousin of the ancient glof that is thought to have carved the English Channel.

“As glaciers disappear around the world, there is less water available for use for hydroelectric power, as a renewable resource for agriculture, for human consumption,” said Benjamin Orlove, a professor of international and public affairs at Colombia University in New York. “The glacier retreat also brings many disasters. Entire slopes are destabilized, creating landslides that travel many miles and have destroyed entire towns.”

Benjamin Morales Arnao, the head of Peru’s National Institute for Glacier Research, said that while the country’s glaciers “are a source of life, due to their water resources and biodiversity … these glaciers are also a source of glacial catastrophes.”

The problem is that glacial lakes are often fragile structures, created when rocks and rubble carried by a glacier form a moraine that dams up its water outflow. The dam can also be created by chunks of a glacier’s own ice. These inherently unstable structures can collapse quickly, especially in a place like Peru that is prone to frequent, violent earthquakes.

At a recent conference on the glacier retreat in Peru, Morales Arnao said that Huaraz, a city of about 100,000 people, is particularly at risk from Palcacocha lake, just 12 miles (20 kilometers) up the mountain above the city, and called for resources to mitigate the risk. Dams, spillways and other waterworks have helped in other places.

Massive glofs have occurred regularly in sparsely populated parts of Iceland and other nations.

The International Centre for Integrated Mountain Development, a regional intergovernmental research center that serves the eight countries of the Himalayas, said that in Nepal — whose proximity to the highest and largest meltwater sources in the world makes it particularly vulnerable — “little attention was paid to the phenomenon until the sudden outburst of the Dig Tsho,” a relatively small meltwater lake in the Mount Everest National Park.

On Aug. 4, 1985, the lake’s moraine dam collapsed, and all its water drained into a downstream valley in four hours, causing losses as far as 30 to 35 miles (50 to 60 kilometers) downstream.

A large ice and rock avalanche had cascaded into the lake, creating a wave that spilled over the moraine and caused it to collapse, the center’s report said. “It discharged an estimated 6 to 10 million cubic meters (as much as 2.6 billion gallons) of water into the valley below.”

Digging stone- or cement-lined channels through glacial dams is one solution to the threat. Many moraine dams collapse because meltwater erodes them by seepage or over-topping them. Stopping global warming that is increasingly causing glaciers to melt is another.

Experts at the International Forum on Glaciers and Mountain Ecosystems held in Huaraz this summer concluded that the world is going to have to plan on melting glaciers, at least for the time being.

“The processes of climate change and glacial melting are irreversible,” the forum said in its conclusions. “We have to carry out actions to adapt, and mitigate the risks.”

“The long-term solution is for the world to shift to different energy sources, sources that are renewable, sources that do not emit gases that cause climate change,” Orlove said. “In the short term we have to find adaptations, like installing early warning systems for disasters in the most sensitive areas.”

Study: Catastrophic declines in wilderness over past 20 years

Researchers reporting in the journal Current Biology show catastrophic declines in wilderness areas around the world over the past 20 years.

They demonstrate alarming losses comprising a tenth of global wilderness since the 1990s – an area twice the size of Alaska and half the size of the Amazon. The Amazon and Central Africa have been hardest hit.

The findings underscore an immediate need for international policies to recognize the value of wilderness areas and to address the unprecedented threats they face, the researchers say.

“Globally important wilderness areas — despite being strongholds for endangered biodiversity, for buffering and regulating local climates, and for supporting many of the world’s most politically and economically marginalized communities — are completely ignored in environmental policy,” says Dr. James Watson of the University of Queensland in Australia and the Wildlife Conservation Society in New York. “Without any policies to protect these areas, they are falling victim to widespread development. We probably have one to two decades to turn this around. International policy mechanisms must recognize the actions needed to maintain wilderness areas before it is too late. We probably have one to two decades to turn this around.”

Watson says much policy attention has been paid to the loss of species, but comparatively little was known about larger-scale losses of entire ecosystems, especially wilderness areas which tend to be relatively understudied.

To fill that gap, the researchers mapped wilderness areas around the globe, with “wilderness” being defined as biologically and ecologically intact landscapes free of any significant human disturbance. The researchers then compared their current map of wilderness to one produced by the same methods in the early 1990s.

This comparison showed that a total of 30.1 million km — around 20 percent of the world’s land area — now remains as wilderness, with the majority being located in North America, North Asia, North Africa, and the Australian continent. However, comparisons between the two maps show that an estimated 3.3 million km — almost 10 percent — of wilderness area has been lost in the intervening years. Those losses have occurred primarily in South America, which has experienced a 30 percent decline in wilderness, and Africa, which has experienced a 14 percent loss.

“The amount of wilderness loss in just two decades is staggering,” according to Dr. Oscar Venter of the University of Northern British Colombia. “We need to recognize that wilderness areas, which we’ve foolishly considered to be de-facto protected due to their remoteness, is actually being dramatically lost around the world. Without proactive global interventions we could lose the last jewels in nature’s crown. You cannot restore wilderness, once it is gone, and the ecological process that underpin these ecosystems are gone, and it never comes back to the state it was. The only option is to proactively protect what is left.”

Watson says the United Nations and others have ignored globally significant wilderness areas in key multilateral environmental agreements and this must change.

“If we don’t act soon, there will only be tiny remnants of wilderness around the planet, and this is a disaster for conservation, for climate change, and for some of the most vulnerable human communities on the planet,” Watson says. “We have a duty to act for our children and their children.”

Climate change may be turning gulls into cannibals

By TRISTAN BAURICK, Kitsap Sun

Jim Hayward slips on a hard hat and pops open an umbrella before stepping into a storm of angry gulls.

Hayward, a seabird biologist based on Protection Island in the Strait of Juan de Fuca, is making his evening rounds through the largest gull nesting colony in the Puget Sound region. He’s been monitoring this site since 1987, so he’s used to the shrieking, the dive-bombing, the frequent splatterings of gull poop, and the pecking at his head, hands and feet.

What he’s not accustomed to is the cannibalism, reported the Kitsap Sun. It’s hard to watch: A fluffy chick straying a few yards from its nest is suddenly snatched up by its neck. Another hungry gull swoops in and bites at the chick’s leg. The mother intervenes but is outnumbered. Her baby disappears under a frenzy of flapping and pecking.

Over the last decade, the gulls have shown a growing taste for their neighbors’ eggs and chicks. The trend appears linked to climate change.

“It doesn’t seem like a lot, but a one-tenth of a degree change in seawater temperature correlates to a 10 percent increase in (the odds of) cannibalism,” said Hayward, a professor at Andrews University in Michigan.

Over the past 60 years, ocean temperatures have increased about 15 times faster than any other time over the past 10,000 years. As temperatures rise, plankton drops into deeper, colder water. Fish that feed on the plankton also drop lower. The surface-feeding gulls, which depend almost entirely on fish while nesting on Protection Island, can’t find enough to eat.

“So they resort to feeding on their neighbors,” Hayward said.

Bird paradise

Protection Island is a high-cliffed and nearly treeless swath of land near the mouth of Discovery Bay about five miles west of Port Townsend.

More than 70 percent of the region’s seabirds nest on Protection — a fact that led to its status as a national wildlife refuge in 1982. The 380-acre island is home to the third largest colony of rhinoceros auklet seabirds in North America and one of the last two breeding sites in the Salish Sea for tufted puffins, which nest in holes burrowed into sandy cliffs.

The island’s ecological value and the fragility of its habitat make it off-limits to the public.

Protection’s only full-time resident is a caretaker employed by the U.S. Department of Fish and Wildlife. Hayward and his wife, mathematician Shandelle Henson, also of Andrews University, spend two months each summer studying the vast glaucous-winged gull population.

High temps, high cannibalism

It was Henson who answered the cannibalism question.

Taking decades of Hayward’s data, she fed it into a computer model loaded with a range of climate and other environmental factors.

“We found that, over the last eight years, there’s a 100 percent correlation between hot years and high cannibalism,” she said.

She also found that gulls are beginning to synchronize egg-laying, possibly in response to cannibalism.

“On one day, we’ll see a ton of eggs. The next day — hardly any,” Hayward said.

Henson’s hypothesis: “If there’s a lot of eggs available all at once, there’s less chance your own eggs will be taken,” she said.

Gulls aren’t picky eaters. They’ll pluck a meal from a dumpster just as readily as a beach at low tide. But during nesting, their range is greatly reduced. They can’t be gone for long from their nests and must rely on whatever the immediate area provides. Increasingly, the region’s marine waters simply aren’t providing.

Forage fish such as herring and sand lance — key food sources for salmon, birds and other marine animals — are in decline. Fish accustomed to warmer water are moving in, but they pack less of a nutritional punch.

“Essentially, they’re getting junk food,” said Scott Pearson, an avian ecologist with the state Department of Fish and Wildlife.

The region’s puffins haven’t resorted to cannibalism but climate change appears to be making them less committed parents.

During periods of high sea temperatures, Puffins tend to abandon their nests, fail to incubate their eggs or skip the nesting routine altogether. That’s probably because they’re so busy and exhausted from food hunting that they can’t invest time or energy into raising the next generation, Pearson said.

While puffin populations are struggling, a visit to any Puget Sound beach makes clear that gulls are anything but endangered, despite the rise in cannibalism.

But what happens with gulls may be happening or may soon happen with other species that aren’t as easy to study, Henson said. Gulls have long been a favorite species for scientists investigating how environmental changes affect animal behavior.

“They’re big, easy to see and easy to find,” Hayward said. The fact that they nest on the ground in densely-packed colonies makes data collection fairly simple. Hayward strolls through each day, counting and measuring eggs and noting the occurrence of chicks or broken eggs in about 300 nests marked with numbered stakes.

“They’re a good indicator species, like canaries in the coal mine,” he said.

Meade Krosby, a research scientist with the University of Washington’s Climate Impacts Group, agrees.

“There’s no doubt climate change has already negatively impacted species around the world,” she said. “We know the oceans are getting warmer, so we can expect more cannibalism.”

Scientists have recently documented climate-related upticks in cannibalism among other species.

As ice recedes in the Arctic, polar bears are finding it harder to hunt seals and other marine mammals. In response, hungry males have been spotted hunting down smaller bears and cubs.

In 2013, warming waters off the coast of Maine sparked a lobster population explosion. With lobsters suddenly the most plentiful food source around, the opportunistic eaters began dining on each other.

“They kind of ate themselves out of business,” Krosby said.

Super cannibals

Cannibalism has been noted in about 1,300 species, including humans. Usually, animals resort to cannibalism as a stopgap measure during periods of food scarcity. Once food is plentiful again, cannibalism ceases.

But what if conditions don’t improve, as appears to be the case with climate change? It could give rise to what Hayward calls “super cannibals.” These are gulls that have largely given up on fish foraging and are instead specializing in hunting their own kind.

“You can tell them because they have scads of egg shells around their territory,” he said. “You see them slowly flap around the colony, and suddenly they drop when they see an unattended nest.”

They also take advantage of the panic caused when an eagle soars overhead. Most gulls begin flying frantic circles, but the super cannibals seize the opportunity, raiding eggs and plucking away chicks.

Cannibal gulls often eat two or three eggs a day — more than enough to meet their caloric needs. Hayward has recorded some of these gulls eating up to 80 eggs in a month.

“For a species, cannibalism is not a good long-term strategy,” Hayward said. “If there’s no food, it can get you across a bad year.”

“But every year,” added Henson, “could be a bad year with climate change.”

A tufted puffin. The region’s puffins haven’t resorted to cannibalism but climate change appears to be making them less committed parents.
A tufted puffin. The region’s puffins haven’t resorted to cannibalism but climate change appears to be making them less committed parents.

Genetic insights about health risks limited by back of diversity

For consumers, the idea of getting a genetic test to determine risks for hereditary diseases is becoming an increasingly common proposition, but new research suggests that sometimes the accuracy of those results may depend on what ethnicity you are.

Take, for instance, hypertrophic cardiomyopathy, one of the most common hereditary heart diseases. It is also a silent disorder that has caused countless young athletes to suffer sudden collapse or cardiac arrest during team practices or sporting events.

African Americans have traditionally been considered at higher risk for the disorder. But a study out Wednesday in the New England Journal of Medicine concluded that common ways to determine that level of risk may be skewed because studies have traditionally had low numbers of black participants. It turns out that genetic characteristics based on ethnic differences caused some people to be diagnosed with a predilection for the disease — even though those markers were actually benign.

The researchers suggest these findings indicate a need for diversity in genomic research in interpreting these differences.

“Historically we’ve had less African American representation in these studies,” said Arjun Manrai, lead author of the study and research fellow at the Harvard Medical School. “Our paper highlights ethnicity as a key way to get a handle on classification of genetic variants.” Genetic variants are differences in DNA structure that determine human features and are unique to every person.

Manrai first looked at the data from the National Heart, Lung, and Blood Institute Exome Sequencing Project, which includes genomic data from 4,300 white Americans and 2,204 African Americans. He expected to find that 1 out of 500 individuals would have the genetic variants that cause the disease — that’s the rate at which the disorder occurs in the general population. But instead, he found that 1 out of 4 individuals had those mutations and those individuals were disproportionately African Americans.

“This was the initial shocking revelation,” he said.

His team decided to figure out if those mutations were misclassified as harmful. They first looked at the initial studies that identified these genetic variants as disease-causing, focusing on five specific abnormalities that appear most frequently in the NHLBI population. They found that these studies had small sample sizes and none had representative samples of African Americans in their control groups.

They then compared genetic sequences of African Americans and whites through the 1000 Genomes Project, which has genome data from 14 populations worldwide, confirming the five variants they identified occurred most commonly among African Americans.

At the same time, they examined data from the Laboratory for Molecular Medicine operated by Partners HealthCare Personalized Medicine, a clinical lab that diagnoses and performs genetic testing for patients. By using the lab’s classification system that includes data regarding the frequency of genetic variants in control populations, they determined that these five variants were actually benign. Four had been classified by the Human Gene Mutation Database in the most pathogenic category.

In the Partners’ clinic records for the past decade, the authors found seven patients of African or unspecified ancestry between 2005 and 2007 who were told they had the disease-causing genes based on these misclassified variants. According to their calculations, inclusion of even a small number of African Americans in study control groups could have prevented the misclassifications.

In regard to hypertrophic cardiomyopathy, the misdiagnoses of risk may have resulted in unnecessary hardships for the patients and the families. But the lack of diversity in scientific studies and control groups can have other significant implications. Esteban Burchard, a professor at the University of California San Francisco, has studied how genetic differences can lead to higher rates of asthma among African Americans, but the drugs designed to treat diseases, he wrote, often work better in people of European origins.

Burchard published a study last year that showed less than 5 percent of lung disease studies funded by the National Institutes of Health in the last two decades have statistically meaningful number of participants from ethnic minorities.

“It’s like basing your whole world … on one opinion or one biologic resource,” Burchard said. “And that’s a problem because we miss the variation in genetics that is present worldwide.”

Genomic data from diverse populations is needed to find mutations specific to different ethnicities that indicate disease or in some cases, demonstrate responsiveness to treatments, he said.

Manrai points toward relatively new projects, such as the NHLBI Exome Sequencing Project and the 1,000 Genomes that now have genomic sequences from diverse populations, although there is still a need for data from Native Americans and Asian Americans.

“There is now an opportunity to use those resources to study hypertrophic cardiomyopathy and other diseases as well as reassess a lot of studies that support the genetic studies that might be decades old,” Manrai said. “Since studies in the past do not have perfect mixes and they shape the current literature, it’s important to evaluate those studies with current data.”

This story by Zhai Yun Tan was made available by Kaiser Health News, a national health policy news service that is part of the nonpartisan Henry J. Kaiser Family Foundation.

NASA: New Mexico Methane ‘hot spot’ linked to fossil fuel industry

A NASA study in New Mexico finds that roughly 50 percent of San Juan Basin methane emissions come from more than 250 very large polluters that were detected by intensive  aerial surveys and ground crews.

The  study of methane emissions generated by the oil and gas industry in the New Mexico’s San Juan Basin is a major step forward in understanding the causes of New Mexico’s methane “hot spot.” It follows up on a 2014 satellite-based study that initially found the “hot spot” and sought to identify its specific causes.

According to the study’s authors, this finding confirms researchers’ earlier speculation that most of the basin’s methane emissions are related to natural gas extraction and coal mining.

The study did not determine the source of the remaining 50 percent of emissions.

Given the more than 20,000 gas wells, myriad storage tanks, thousands of miles of pipelines and several gas processing plants in the area, NASA’s finding that the oil and gas industry is primarily responsible for the “hot spot” is not surprising, according to the Western Environmental Law Center.

WELC, in a news release, said researchers found only one large source of methane not related to oil and gas operations: venting from the San Juan coal mine.

Despite identifying the source of the emissions, one of the authors’ key conclusions is not supported by the evidence, according to WELC. The report says that the small number of large methane sources, “suggests that mitigation of field-wide emissions such as those estimated for Four Corners will be less costly because it only requires identifying and fixing a few emitters.”

WELC said, “The other 50 percent of methane emissions in the region cannot be ignored and mitigating field-wide emissions will require the oil and gas industry to cut emissions from all sources, large and small, if we are to eliminate New Mexico’s ‘hot spot.’ New comprehensive oil and gas methane standards from the EPA and the Bureau of Land Management are currently in the works and, once completed, will require the industry to cut its methane emissions from all sources.”

Divided America: Global warming more polarizing than abortion

Tempers are rising in America, along with the temperatures.

Two decades ago, the issue of climate change wasn’t as contentious. The leading U.S. Senate proponent of taking action on global warming was Republican John McCain. George W. Bush wasn’t as zealous on the issue as his Democratic opponent for president in 2000, Al Gore, but he, too, talked of regulating carbon dioxide.

Then the Earth got even hotter , repeatedly breaking temperature records. But instead of drawing closer together, politicians polarized.

Democrats and scientists became more convinced that global warming was a real, man-made threat .

But Republicans and tea party activists became more convinced that it was — to quote the repeated tweets of presidential nominee Donald Trump — a “hoax.”

When it comes to science, there’s more than climate that divides America’s leaders and people, such as evolution, vaccination and genetically modified food.

But nothing beats climate change for divisiveness.

“It’s more politically polarizing than abortion,” says Anthony Leiserowitz, director of the Yale Program on Climate Change Communication. “It’s more politically polarizing than gay marriage.”

Leiserowitz says his surveys show 17 percent of Americans, the fastest-growing group, are alarmed by climate change and want action now, with another 28 percent concerned but viewing it as a more distant threat.

But there’s an often-vocal 10 percent who are dismissive, rejecting the concept of warming and the science

Sometimes dismissiveness and desire for action mix in one family.

Rick and Julie Joyner of Fort Mill, South Carolina, are founders of MorningStar ministries. Most of the people they associate with reject climate change. Their 31-year-old daughter, Anna Jane, is a climate change activist.

As part of a documentary a few years ago, Anna Jane introduced Rick to scientists who made the case for climate change. It did not work. He labels himself more skeptical than before.

“They’re both stubborn and equally entrenched in their positions,” says Julie, who is often in the middle. “It doesn’t get ugly too often.”

 

TRIBALISM

People in the 1960s “had faith in science, had hope in science. Most people thought science was responsible for improving their daily lives,” says Marcia McNutt, president of the National Academy of Sciences.

Now “we see partisan polarization or ideological polarization,” says Matthew Nisbet, a communications professor at Northeastern University.

The split with science is most visible and strident when it comes to climate change because the nature of the global problem requires communal joint action, and “for conservatives that’s especially difficult to accept,” Nisbet says.

Climate change is more about tribalism, or who we identify with politically and socially, Nisbet and other experts say. Liberals believe in global warming, conservatives don’t.

Dave Woodard, a Clemson University political science professor and GOP consultant, helped South Carolina Republican Bob Inglis run for the U.S. House (successfully) and the Senate (unsuccessfully). They’d meet monthly at Inglis’ home for Bible study, and were in agreement that global warming wasn’t an issue and probably was not real.

After seeing the effects of warming first-hand in Antarctica and Australia’s Great Barrier Reef, Inglis changed his mind — and was overwhelmingly defeated in a GOP primary in 2010. Woodard helped run the campaign that beat him.

“I was seen as crossing to the other side, as helping the Al Gore tribe, and that could not be forgiven,” Inglis says.

Judy Curry, a Georgia Tech atmospheric scientist and self-described climate gadfly, has experienced ostracism from the other side. She repeatedly clashed with former colleagues after she publicly doubted the extent of global warming and criticized the way mainstream scientists operate. Now she says, no one will even look at her for other jobs in academia.

 

WHAT CHANGED

In 1997, then-Vice President Gore helped broker an international treaty to reduce heat-trapping gases from the burning of coal, oil and gas.

“And at that moment” says Leiserowitz, “the two parties begin to divide. They begin to split and go farther and farther and farther apart until we reach today’s environment where climate change is now one of the most polarized issues in America.”

Consider lobster scientist Diane Cowan in Friendship, Maine, who expresses dismay.

“I am definitely bearing witness to climate change,” Cowan says. “I read about climate change. I knew sea level was rising but I saw it and, until it impacted me directly, I didn’t feel it the same way.”

Republican Jodi Crosson, a 55-year-old single mother and production and sales manager in Bexley, Ohio, thinks global warming is a serious problem because she’s felt the wrath of extreme weather and rising heat. But to her, it’s not quite as big an issue as the economy.

Scott Tiller, a 59-year-old underground coal miner in West Virginia, has seen mine after mine close, and says coal is getting a bad rap.

“I think we’ve been treated unfairly and kind of looked down upon as polluters,” Tiller says. “They say the climate is changing, but are we doing it? Or is it just a natural thing that the Earth does?”

 

BRIDGING DIFFERENCES

Overwhelmingly, scientists who study the issue say it is man-made and a real problem. Using basic physics and chemistry and computer simulations, scientists have repeatedly calculated that most of the extra warming comes from humans, instead of nature. Dozens of scientific measurements show Earth is warming. Since 1997, the world has warmed by 0.44 degrees (0.25 degrees Celsius).

Repeatedly explaining science and showing data doesn’t convince some people to change their core beliefs, experts say. So instead some climate activists and even scientists try to build bridges to communities that might doubt that the Earth is warming but are not utterly dismissive.

The more people connect on a human level, the more people can “overcome these tribal attitudes,” Anna Jane Joyner says. “We really do have a lot more in common than we think.”