Medicine

India Reports First Case of Highly Transmissible XE Variant (bloomberg.com) 64

Mumbai's city administration reported India's first case of the highly-transmissible coronavirus variant, XE, on Wednesday. From a report: The hybrid of two omicron strains BA.1 and BA.2 was detected in a 50-year-old woman who had traveled to the city from South Africa in February, the Brihanmumbai Municipal Corporation said in a statement. The asymptomatic patient had no cormorbidities and had been quarantined after being diagnosed almost a month later in March, the BMC said. The hybrid strain, which was first detected in the U.K., could be the most transmissible variant yet, according to the World Health Organization.
Medicine

$4 billion Health Tech Startup Olive Overpromises and Underdelivers (axios.com) 24

Olive is the buzzy startup whose purple "go save health care" buses dominate industry conferences. But its promises to save health systems millions of dollars with its automation software don't deliver. Axios reports: An Axios investigation finds that Olive relies on rough estimations for its calculations, inflates its capabilities and, in many cases, generates only a fraction of the savings it pledges. Erin's reporting includes interviews with 16 people, including former and current employees and health tech executives.

Valued at $4 billion by firms like Tiger Global and Vista Equity Partners, Olive is the highest-profile startup in health care automation; a holy grail that promises to cut costs and direct more time toward patient care. In just 10 years, Olive's promise to reduce its clients' administrative spending by roughly 5X the cost of installing the software has garnered the attention of some of the largest health systems in the U.S. Axios' reporting, which includes interviews with 16 people -- including former and current employees, health tech executives and others -- finds Olive is failing to deliver on those promises.

Medicine

7,000 Steps Can Save Your Life (axios.com) 68

Mortality risk was reduced by 50% for older adults who increased their daily steps from around 3,000 to around 7,000, according to new medical research. Axios reports: 7,000 is the new 10,000, in terms of steps you should shoot for, The Lancet medical journal reports. This is all it takes for those 60 and older to dramatically increase their lifespans. Even for younger adults, the benefits of daily walking actually level off around 9,000 steps per day, not 10,000, the researchers found. The risk reduction plateaued beyond that number.

"Walking benefits nearly every cell in the body," says Amanda Paluch, a kinesiologist and public health expert at UMass Amherst and the lead author of the study. It's wildly effective. Walking strengthens your heart, improves bone density, relaxes your mind, and helps with muscle-building and pain management. Almost everyone can do it anywhere: your house, the office, outside. Start with 30 minutes and work your way up."It's not an all or nothing situation," says Paluch. Even just boosting daily step count to 5,000 -- for 60 and older -- and 7,000 -- for younger folks -- slashed mortality risk by 40%.

Medicine

Alzheimer's Study Finds 42 More Genes Linked To Higher Risk of Disease (theguardian.com) 28

An anonymous reader quotes a report from the Guardian: The largest genetic study of Alzheimer's to date has provided compelling evidence linking the disease to disruption in the brain's immune system. The study, using the genomes of 100,000 people with Alzheimer's and 600,000 healthy people, identified 75 genes linked to an increased risk of the disease, including 42 that had not previously been implicated. The findings suggest degeneration in the brains of dementia patients could be spurred on by "over-aggressive" activity in the brain's immune cells, called microglia.

The study, the largest of its kind to date, also allowed scientists to devise a genetic risk score that could predict which patients with cognitive impairment would, within three years of first showing symptoms, go on to develop Alzheimer's. The score is not intended for clinical use at the moment, but could be used when recruiting people for clinical trials of drugs aimed at treating the disease in the earliest stages. The latest work highlights different sets of genes seen in more common forms of Alzheimer's, including a role for the immune system. "If [at the outset] we'd seen the genetics of common disease, we would've said this is an immune disease," said professor Julie Williams, the director of the UK Dementia Research Institute at Cardiff University and a co-author of the study. "It's not the same disease."

Risk genes highlighted in the study include ones that affect how efficiently the brain's immune cells, microglia, clear away tissue that is distressed. In people at risk, these housekeeper cells appeared to be working too aggressively. A similar pattern was found for genes that control how readily synapses, which connect neurons, send out an "eat me" signal when in distress. The high-risk variants appeared to lower the threshold for synapses sending out distress signals, causing the brain to purge connections at a quicker rate. The findings, published in the journal Nature Genetics, fit with previous results pointing to a role for the immune system. People with diabetes, which affects the immune system, are at considerably higher risk, for instance, and once dementia has been diagnosed infections can trigger more rapid cognitive decline.

Biotech

This Snakelike Robot Slithers Down Your Lungs and Could Spot Cancer (msn.com) 28

"Researchers in the United Kingdom have developed an autonomous, snakelike robot designed to slither down human lungs into places that are difficult for medical professionals to reach," reports the Washington Post.

The tool "could improve the detection and treatment of lung cancer and other pulmonary diseases." In a medical paper released in the journal of Soft Robotics last week, scientists from the University of Leeds unveiled a new "magnetic tentacle robot," which is composed of magnetic discs and is roughly 2 millimeters thick — about double the size of a ballpoint pen tip — and less than a-tenth-of-an-inch long.

In the future, the robot's use could be expanded to help doctors better, and more thoroughly, investigate other organs, such as the human heart, kidney or pancreas, they said....

The robot is still 5 to 10 years away from showing up in a clinical setting, researchers said, but the device comes on the heels of a fleet of other robotic innovations allowing doctors the ability to better scan a patient's lungs for cancerous tissue. They are designed to ease a task doctors have long struggled with: reaching the inner recesses of the human body, for diagnostic and treatment purposes, without causing damage or using invasive procedures.... [I]ts smaller size and magnetic composition would allow it to shape-shift more easily and better navigate the intricate shape of a lung's network of airways, which can look like a tree....

Once at its desired location, the robot could ultimately have the capability to take a tissue sample or deliver a clinical treatment.... Nitish V. Thakor, a professor of biomedical engineering at Johns Hopkins University, said the autonomous robot is "very novel and interesting technology" that could become potentially useful in areas outside the lungs, most notably the heart. The device's autonomous capability is its unique factor, he said, and has the capability to change invasive surgeries. "I can imagine a future," he said, "where a full [cancer-screening] CAT scan is done of the lungs, and the surgeon sits down on a computer and lays out this navigation path of this kind of a snake robot and says: 'Go get it.' "

Medicine

Experts Push For Genetic Testing To Personalise Drug Prescriptions (theguardian.com) 27

Genetic testing to predict how individuals will respond to common medicines should be implemented without delay to reduce the risk of side-effects and ensure that everyone is given the right drug at the right dose, experts have said. From a report: About 6.5% of UK hospital admissions are caused by adverse drug reactions, while most prescription medicines only work on 30% to 50% of people. A significant part of this is due to genetics: almost 99% of people carry at least one genetic variation that affects their response to certain drugs, including commonly prescribed painkillers, heart disease drugs and antidepressants. By the age of 70, about 90% of people are taking at least one of these medications.

A new report, published by the British Pharmacological Society and the Royal College of Physicians, argues that many of these issues could be addressed through pharmacogenomic testing, which allows personalised prescribing according to people's genes. "The ultimate goal is to make pharmacogenomic prescribing a reality for everyone within the NHS, which will empower healthcare professionals to deliver better, more personalised care," said Sir Munir Pirmohamed, a professor of pharmacology and therapeutics at the University of Liverpool, who chaired the report's working party. "The aim of pharmacogenomics is to make sure patients get the right drug, at the right dose, at the right time to be able to improve their outcomes, treat their symptoms, cure their disease and prevent side-effects."

Medicine

Walgreens Turns To Robots To Fill Prescriptions (cnbc.com) 66

Walgreens Boots Alliance is opening robot-powered micro-fulfillment centers across the U.S. to fill customers' prescriptions as the role of stores and pharmacists change. CNBC reports: Inside of a large facility in the Dallas area, they fill thousands of prescriptions for customers who take medications to manage or treat high blood pressure, diabetes or other conditions. Each robot can fill 300 prescriptions in an hour, the company said -- roughly the same number that a typical Walgreens pharmacy with a handful of staff may do in a day.

Walgreens Boots Alliance is opening the automated, centralized hubs to keep up in the fast-changing pharmacy industry. The pandemic has intensified the drugstore chain's need to stay relevant as online pharmacies siphon off sales and more customers have items from toilet paper to toothpaste delivered to their doorstep. The global health crisis has also heightened demand for pharmacists, as hospitals and drugstores hired them to administer Covid vaccines and tests. That has forced Walgreens and its competitors, CVS Health and Rite Aid, to rethink the role of their stores and pharmacists.

By 2025, as much as half of Walgreens' prescription volume from stores could be filled at the automated centers, said Rex Swords, who oversees facilities as Walgreens' group president of centralized services, operations and planning. That will free up more of pharmacists' time to provide health care, Brewer said in an interview with CNBC's Bertha Coombs. "We're doing all of this work, so that the pharmacist has an easier job, so that they can get back to being front and center, building a relationship with that patient and interacting the way they were trained -- the work that they love to do," she said. Pharmacists will continue to fill time-sensitive medications and controlled substances at local stores as the company expands its use of robots.

Medicine

'We Study Virus Evolution. Here's Where We Think the Coronavirus Is Going.' (nytimes.com) 130

Sarah Cobey, who studies the interaction of immunity, virus evolution and transmission at the University of Chicago, Jesse Bloom and Tyler Starr, both of whom study virus evolution at Fred Hutchinson Cancer Research Center in Seattle, writing for The New York Times: It's impossible to say whether future variants will have more big Omicron-like jumps or more typical stepwise changes, but we are confident SARS-CoV-2 will continue to evolve to escape immunity. While transmissibility of viruses does plateau at a certain point, other human viruses that escape immunity keep doing so. The influenza vaccine has been updated annually for decades to chase viral evolution, and some influenza viruses show no sign of slowing down. Immune escape is an endless evolutionary arms race, because the immune system can always make new antibodies and the virus has a vast set of mutations to explore in response. For instance, Omicron has just a tiny fraction of the many mutations that have been observed in SARS-CoV-2 or related bat viruses, which are in turn just a small fraction of what lab experiments suggest the virus could potentially explore.

Taking all this together, we expect SARS-CoV-2 will continue to cause new epidemics, but they will increasingly be driven by the ability to skirt the immune system. In this sense, the future may look something like the seasonal flu, where new variants cause waves of cases each year. If this happens, which we expect it will, vaccines may need to be updated regularly similar to the flu vaccines unless we develop broader variant-proof vaccines. And of course, how much all this matters for public health depends on how sick the virus makes us. That is the hardest prediction to make, because evolution selects for viruses that spread well, and whether that makes disease severity go up or down is mostly a matter of luck. But we do know that immunity reduces disease severity even when it doesn't fully block infections and spread, and immunity gained from vaccination and prior infections has helped blunt the impact of the Omicron wave in many countries. Updated or improved vaccines and other measures that slow transmission remain our best strategies for handling an uncertain evolutionary future.

Crime

Former Yale Employee Admits She Stole $40 Million In Electronics From University (npr.org) 76

An anonymous reader quotes a report from NPR: A nearly decade-long scheme to steal millions of dollars of computers and iPads from Yale University's School of Medicine is officially over. Former Yale administrator Jamie Petrone, 42, pleaded guilty Monday in federal court in Hartford, Conn., to two counts of wire fraud and a tax offense for her role in the plot. Petrone's ploy started as far back as 2013 and continued well into 2021 while she worked at the university, according to the U.S. Attorney's Office for the District of Connecticut. Until recently, her role was the director of finance and administration for the Department of Emergency Medicine at Yale. As part of this job, Petrone had the authority to make and authorize certain purchases for the department -- as long as the amount was below $10,000.

Starting in 2013, Petrone would order, or have a member of her staff order, computers and other electronics, which totaled to thousands of items over the years, from Yale vendors using the Yale School of Medicine's money. She would then arrange to ship the stolen hardware, whose costs amounted to millions of dollars, to a business in New York, in exchange for money once the electronics were resold. Investigators said Petrone would report on documents to the school that the equipment was for specific needs at the university, like medical studies that ultimately didn't exist. She would break up the fraudulent purchases into orders that were below $10,000 each so that she wouldn't need to get additional approval from school officials. Petrone would ship this equipment out herself to the third-party business that would resell the equipment. It would later pay Petrone by wiring funds into an account of Maziv Entertainment LLC, a company she created.

Petrone used the money to live the high life, buy real estate and travel, federal prosecutors say. She bought luxury cars as well. At the time of her guilty pleas, she was in possession of two Mercedes-Benz vehicles, two Cadillac Escalades, a Dodge Charger and a Range Rover. [...] At the time of her guilty plea, she agreed to forfeit the luxury vehicles as well as three homes in Connecticut. A property she owns in Georgia may also be seized. Petrone has also agreed to forfeit more than $560,000 that was seized from the Maziv Entertainment LLC bank account. Federal prosecutors say the loss to Yale totals approximately $40,504,200.

Medicine

Patients With Covid and Flu Double the Risk of Dying, Say Scientists (theguardian.com) 81

Covid-19 patients who have been hospitalised should also be routinely tested for flu, researchers have said. The call was made after the publication of a paper in the medical journal the Lancet that revealed having both conditions more than doubles the risk of a patient dying. From a report: Scientists also discovered that individuals who had contracted both Sars-CoV-2, the virus that causes Covid-19, and influenza viruses were more than four times more likely to require ventilation support and 2.4 times more likely to die than if they just had Covid-19. "We found that the combination of Covid-19 and flu viruses is particularly dangerous," said Professor Kenneth Baillie of Edinburgh University. "We expect that Covid-19 will circulate with flu, increasing the chance of co-infections. That is why we should change our testing strategy for Covid-19 patients in hospital and test for flu much more widely."

The study looked at more than 305,000 hospitalised patients with Covid-19 and involved researchers from Edinburgh University, Liverpool University, Imperial College London and Leiden University in the Netherlands. A total of 6,965 patients were found to have had Covid-19, while 227 also had the influenza virus. These individuals experienced significantly more severe outcomes, researchers found. "We were surprised that the risk of death more than doubled when people were infected by both flu and Covid-19 viruses," said Professor Calum Semple of Liverpool University. "It is now very important that people get fully vaccinated and boosted against both viruses, and not leave it until it is too late."

Biotech

CNBC: 'Stem Cells May Finally Offer a Cure for Type 1 Diabetes' (cnbc.com) 60

On Saturday CNBC published a remarkable headline. "Stem cells may finally offer a cure for Type 1 diabetes." There are 537 million people around the world living with diabetes. And that number is growing.... But over the past 20 years, significant advancements in stem cell research and therapies have revealed promising methods of creating new insulin-making cells, which are needed to cure Type 1 diabetes. Biotech company Vertex Pharmaceuticals recently began a clinical trial where it plans to treat 17 participants who have Type 1 diabetes with new insulin-making cells derived from stem cells. The first patient in the trial, Brian Shelton, has had positive results. After 150 days, Shelton was able to reduce the amount of insulin he injects by 92%.

Other global companies are also working to cure diabetes, such as ViaCyte, CRISPR, and Novo Nordisk, one of the biggest insulin manufacturers in the world.

In CNBC's 20-minute video, a VP/disease area executive from Vertex Pharmaceuticals explains that diabetes is "one of the few diseases where a single cell type is destroyed or missing" — the pancreas cell that produces insulin. So they're exploring "the idea that if you could create those cells and replace them, you can really address the underlying causal biology of the disease directly."

CNBC also spoke to Brian Shelton, the trial's first patient, who's been a Type 1 diabetic for 44 years, and whose pancreas suddenly started producing insulin again. "Now my body does it all on its own," Shelton says. The news was especially surprising, CNBC reports, because "as the first person in the trial, Shelton received only half of the anticipated dose to ensure it was safe."

One researcher they spoke to even predicts that biological solutions will compete with "ongoing efforts to use nanotechnology to miniaturize all the hardware necessary to do this," and that within the next 3 to 5 years patients will finally have the option of "something that is really Cadillac." And Aaron Kowalski, CEO of the nonprofit Juvenile Diabetes Research Foundation, tells CNBC, "I am fully convinced that I will walk away from my insulin pump and continuous glucose monitor in my lifetime, and I would be disappointed if it wasn't in this decade."

CNBC's report concludes, "For diabetics who want a cure that requires no additional treatment, it may no longer be a question of if, but a matter of when."
Medicine

Russia's Invasion of Ukraine Could Also Cause New Epidemics, Health Experts Worry (seattletimes.com) 67

Heath workers worry Russia's invasion of Ukraine "threatens to upend decades of progress against infectious diseases throughout the region," reports the New York Times, "sparking new epidemics that will be nearly impossible to control." Ukraine has alarmingly high numbers of people living with HIV and hepatitis C and dangerously low levels of vaccination against measles, polio and COVID-19. Overcrowded and unsanitary living conditions for refugees are breeding grounds for cholera and other diarrheal diseases, not to mention respiratory plagues like COVID-19, pneumonia and tuberculosis.... Ukraine and the surrounding region also make up a world epicenter of multi-drug-resistant tuberculosis, a form of the disease impervious to the most powerful medications. The Ukrainian health ministry in recent years had made progress in bringing these epidemics under control, including a 21% drop in new HIV infections and a 36% decline in TB diagnoses since 2010. But health officials now fear that delays in diagnosis and treatment interruptions during the war may allow these pathogens to flourish again, with consequences that ripple for years.

"Last year, we were working to differentiate between different TB mutations," Iana Terleeva, who heads tuberculosis programs for Ukraine's Ministry of Health, said in a statement. "Now instead, we are trying to differentiate between aerial shelling, raids and other military hardware." The fighting also has damaged health facilities throughout the country and spawned a refugee crisis, imperiling thousands of people with chronic conditions like diabetes and cancer who depend on continuing care....

Only about 80% of Ukrainian children were immunized against polio in 2021, and the country had detected a few polio cases even before the war began. The vaccination coverage for measles in Ukraine is likewise too low to prevent outbreaks. These are the ingredients of a public health calamity, many experts fear.

The WHO and other organizations are deploying medical teams and shipping supplies, vaccines and drugs to Ukraine and to neighboring countries. But the aid may never reach areas of active conflict.

Medicine

Dangerous Chemicals In Food Wrappers At Fast-Food Restaurants, Grocery Chains (cnn.com) 95

fahrbot-bot shares a report from CNN: Alarming levels of dangerous chemicals known as PFAS (per- and polyfluoroalkyl substances) were discovered in food packaging at a number of well-known fast-food and fast-casual restaurants and grocery store chains, a new report found. The highest levels of indicators for PFAS were found in food packaging from Nathan's Famous, Cava, Arby's, Burger King, Chick-fil-A, Stop & Shop, Sweetgreen, McDonald's and Taco Bell according to an investigation released Thursday by Consumer Reports.

The Consumer Reports investigation collected 118 food packaging products sold by 24 companies in the tristate area of New York, New Jersey and Connecticut. It tested those products for organic fluorine -- a marker for PFAS. Researchers then sent samples of products with the highest levels to an independent laboratory that could perform more specific tests, said Michael Hansen, senior staff scientist for advocacy at Consumer Reports. Regulatory limits for how much PFAS food packaging should contain can vary greatly. In the US, there are no federal limits, leaving action up to the states. Connecticut, Maine, Minnesota, New York, Vermont and Washington have passed bills banning intentional use of PFAS in food packaging, but haven't yet specified a limit, according to Consumer Reports. In January 2023, a new law in California will set the limit at less than 100 ppm (parts per million).

The Consumer Reports investigation found the highest indicators for PFAS -- 876 ppm and 618 ppm -- in two types of bags for sides at Nathan's Famous restaurants. High indicators of PFAS (in the 500s) were also found in a Chick-fil-A sandwich wrapper and in fiber bowls at Cava, a Mediterranean restaurant chain. Indicator levels in the 300s and 400s were found in a bag of cookies at Arby's, bamboo paper plates at Stop & Shop, and in a bag for both cookies and French toast sticks at Burger King. Levels of PFAS indicators in the 200s were found in a Sweetgreen paper bag for focaccia, additional items at Cava, and in bags for french fries, cookies and Chicken McNuggets at McDonald's. However, all of the companies listed had additional food packaging that tested at levels below 200 ppm. Four companies -- Arby's, Nathan's Famous, McDonald's and Stop & Shop -- also sold food in packaging that had no detectable levels of PFAS, the report said.

Medicine

Half of Women Will Get a False Positive 3D Mammogram, Study Finds (axios.com) 39

An anonymous reader quotes a report from Axios: Half of all women getting 3D mammograms will experience a false positive over a decade of annual screening, a study published Friday in JAMA Network Open found. False positives -- when a mammogram is flagged as abnormal, but there is no cancer -- have always been a problem. But 3D mammography has been aggressively marketed by hospitals, doctors and some patient groups for its ability to provide higher image quality images -- and previous studies have found they result in fewer false positives.

The researchers analyzed data from the Breast Cancer Surveillance Consortium on 3 million screening mammograms for more than 900,000 women ages 40-79. The screenings were performed between 2005 and 2018 at 126 radiology facilities. Researchers estimate over 10 years of getting 3D mammograms, 50% of women will experience at least one false-positive recall compared to 56% of women screened with 2D digital mammograms. Women with dense breasts or who were younger, as well as those who screened every year compared to once every two years, had a higher chance of a false positive.
"Whenever you're called back for an additional workup, it's very stressful because women think they may have cancer," Diana Miglioretti, a lead author and professor and division chief of biostatistics at UC Davis Department of Public Health Sciences, told Axios.

"Often it may take days to even weeks to get that resolved," she said. "The main thing is we want to alleviate women's anxiety over these false positives and understand they are very common."
Medicine

CDC Coding Error Led To Overcount of 72,000 COVID-19 Deaths (theguardian.com) 213

Last week, after reporting from the Guardian on mortality rates among children, the CDC corrected a "coding logic error" that had inadvertently added more than 72,000 Covid deaths of all ages to the data tracker, one of the most publicly accessible sources for Covid data. The Guardian reports: The agency briefly noted the change in a footnote, although the note did not explain how the error occurred or how long it was in effect. A total of 72,277 deaths in all age groups reported across 26 states were removed from the tracker "because CDC's algorithm was accidentally counting deaths that were not Covid-19-related," Jasmine Reed, a spokesperson for the agency, told the Guardian. The problem stemmed from two questions the CDC asks of states and jurisdictions when they report fatalities, according to a source familiar with the issue.

One data field asks if a person died "from illness/complications of illness," and the field next to this asks for the date of death. When the answer is yes, then the date of death should be provided. But a problem apparently arose if a respondent included the date of death in this field even when the answer was "no" or "unknown." The CDC's system assumed that if a date was provided, then the "no" or "unknown" answer was an error, and the system switched the answer to "yes." This resulted in an overcount of deaths due to Covid in the demographic breakdown, and the error, once discovered, was corrected last week. The CDC did not answer a question on how long the coding error was in effect.

"Working with near real-time data in an emergency is critical to guide decision-making, but may also mean we often have incomplete information when data are first reported," said Reed. The death counts in the data tracker are "real-time and subject to change," Reed noted, while numbers from the National Center for Health Statistics, a center within the CDC, are "the most complete source of death data," despite lags in reporting, because the process includes a review of death certificates.

China

China's Ministry of Foreign Affairs Now Spreading Conspiracy Theory that Moderna Created Covid 177

China's Ministry of Foreign Affairs now spreading the conspiracy theory that Moderna created Covid. New York Times reporter Paul Mozur: Hard to believe they don't see the credibility they lose amplifying this stuff. Takeaway is still no sign the wolf warrior approach has been reconsidered. [...] It underscores how the CAC quashes rumors it doesn't like, but let's those of political expediency flourish within China.
Medicine

Scientists Say They Can Read Nearly the Whole Genome of an IVF-Created Embryo (science.org) 44

sciencehabit shares a report from Science.org: A California company says it can decipher almost all the DNA code of a days-old embryo created through in vitro fertilization (IVF) -- a challenging feat because of the tiny volume of genetic material available for analysis. The advance depends on fully sequencing both parents' DNA and "reconstructing" an embryo's genome with the help of those data. And the company suggests it could make it possible to forecast risk for common diseases that develop decades down the line. Currently, such genetic risk prediction is being tested in adults, and sometimes offered clinically. The idea of applying it to IVF embryos has generated intense scientific and ethical controversy. But that hasn't stopped the technology from galloping ahead.

Predicting a person's chance of a specific illness by blending this genetic variability into what's called a "polygenic risk score" remains under study in adults, in part because our understanding of how gene variants come together to drive or protect against disease remains a work in progress. In embryos it's even harder to prove a risk score's accuracy, researchers say. The new work on polygenic risk scores for IVF embryos is "exploratory research," says Premal Shah, CEO of MyOme, the company reporting the results. Today in Nature Medicine, the MyOme team, led by company co-founders and scientists Matthew Rabinowitz and Akash Kumar, along with colleagues elsewhere, describe creating such scores by first sequencing the genomes of 10 pairs of parents who had already undergone IVF and had babies. The researchers then used data collected during the IVF process: The couples' embryos, 110 in all, had undergone limited genetic testing at that time, a sort of spot sequencing of cells, called microarray measurements. Such analysis can test for an abnormal number of chromosomes, certain genetic diseases, and rearrangements of large chunks of DNA, and it has become an increasingly common part of IVF treatment in the United States. By combining these patchy embryo data with the more complete parental genome sequences, and applying statistical and population genomics techniques, the researchers could account for the gene shuffling that occurs during reproduction and calculate which chromosomes each parent had passed down to each embryo. In this way, they could predict much of that embryo's DNA.

The researchers had a handy way to see whether their reconstruction was accurate: Check the couples' babies. They collected cheek swab samples from the babies and sequenced their full genome, just as they'd done with the parents. They then compared that "true sequence" with the reconstructed genome for the embryo from which the child originated. The comparison revealed, essentially, a match: For a 3-day-old embryo, at least 96% of the reconstructed genome aligned with the inherited gene variants in the corresponding baby; for a 5-day-old embryo, it was at least 98%. (Because much of the human genome is the same across all people, the researchers focused on the DNA variability that made the parents, and their babies, unique.) Once they had reconstructed embryo genomes in hand, the researchers turned to published data from large genomic studies of adults with or without common chronic diseases and the polygenic risk score models that were derived from that information. Then, MyOme applied those models to the embryos, crunching polygenic risk scores for 12 diseases, including breast cancer, coronary artery disease, and type 2 diabetes. The team also experimented with combining the reconstructed embryo sequence of single genes, such as BRCA1 and BRCA2, that are known to dramatically raise risk of certain diseases, with an embryo's polygenic risk scores for that condition -- in this case, breast cancer.

Science

Sleeping With the Light On May Be Harmful To You (northwestern.edu) 36

"Exposure to even moderate ambient lighting during nighttime sleep, compared to sleeping in a dimly lit room, harms your cardiovascular function during sleep and increases your insulin resistance the following morning," announced Northwestern Medicine, citing a new study recently published in the Proceedings of the National Academy of Sciences.

The Washington Post reports: Researchers at Northwestern University had two groups of 10 young adults sleep in differently lit rooms. One group slept in rooms with dim light for two nights; the other slept one night in a room with dim night and the next in a room with moderate overhead light — about the equivalent of an overcast day. Participants wore heart monitors at night. In the morning, they did a variety of glucose tests.

Both groups got the same amount of sleep but their bodies experienced very different nights. Both groups responded well to insulin the first night, when they both slept in dim lighting. On the second night, however, the group sleeping in brighter lighting didn't respond as well to insulin. The dim light sleepers' insulin resistance scores fell about 4 percent on the second night, while the bright sleepers' rose about 15 percent. Their heart rates were faster on the bright night, too.

"[J]ust a single night of exposure to moderate room lighting during sleep can impair glucose and cardiovascular regulation, which are risk factors for heart disease, diabetes and metabolic syndrome," concludes senior study author Dr. Phyllis Zee. "It's important for people to avoid or minimize the amount of light exposure during sleep."

From Northwestern's announcement: There is already evidence that light exposure during daytime increases heart rate via activation of the sympathetic nervous system, which kicks your heart into high gear and heightens alertness to meet the challenges of the day. "Our results indicate that a similar effect is also present when exposure to light occurs during nighttime sleep," Zee said....

An earlier study published in JAMA Internal Medicine looked at a large population of healthy people who had exposure to light during sleep. They were more overweight and obese, Zee said. "Now we are showing a mechanism that might be fundamental to explain why this happens. We show it's affecting your ability to regulate glucose," Zee said.

Science

Brain-Imaging Studies Hampered by Small Data Sets, Study Finds (nytimes.com) 22

For two decades, researchers have used brain-imaging technology to try to identify how the structure and function of a person's brain connects to a range of mental-health ailments, from anxiety and depression to suicidal tendencies. But a new paper, published Wednesday in Nature, calls into question whether much of this research is actually yielding valid findings. The New York Times reports: Many such studies, the paper's authors found, tend to include fewer than two dozen participants, far shy of the number needed to generate reliable results. "You need thousands of individuals," said Scott Marek, a psychiatric researcher at the Washington University School of Medicine in St. Louis and an author of the paper. He described the finding as a "gut punch" for the typical studies that use imaging to try to better understand mental health.

Studies that use magnetic-resonance imaging technology commonly temper their conclusions with a cautionary statement noting the small sample size. But enlisting participants can be time-consuming and expensive, ranging from $600 to $2,000 an hour, said Dr. Nico Dosenbach, a neurologist at Washington University School of Medicine and another author on the paper. The median number of subjects in mental-health-related studies that use brain imaging is around 23, he added. But the Nature paper demonstrates that the data drawn from just two dozen subjects is generally insufficient to be reliable and can in fact yield 'massively inflated' findings," Dr. Dosenbach said.
The findings from the Nature paper can "absolutely" be applied to other fields beyond mental health, said Marek. "My hunch this is much more about population science than it is about any one of those fields," he said.
Medicine

Pfizer Halts Clinical Trials In Russia But Will Continue To Supply Medicine (time.com) 73

An anonymous reader quotes a report from Time: Pfizer said it would no longer start new clinical trials in Russia and that it would donate all profits from its subsidiary in the country to Ukraine relief causes. At the same time, the drugmaker said in a statement that it will continue to supply medicines to Russia, out of fear that vulnerable patients such as children and elderly people who rely on its therapies could be harmed by any halt. The company "concluded that a voluntary pause in the flow of our medicines to Russia would be in direct violation of our foundational principle of putting patients first," according to the statement. Pfizer said it doesn't own or operate any manufacturing sites in Russia and plans to cease planned investments with local suppliers. Pfizer said it would work with the U.S. Food and Drug Administration and other regulators to move current clinical trials to alternative locations outside of Russia. Patients already enrolled in studies will continue to receive medications, the company said.

Slashdot Top Deals