Anti-abortion groups target women with misleading ads

SharecloseShare pageCopy linkAbout sharingImage source, Getty Images When Hana found out she was pregnant, she searched Google for “abortion clinics near me”. The first result – a neutral-looking website offering a free consultation – looked like her best bet. It wasn’t until the 19-year-old was walking down corridors of the north-eastern US clinic, lined with posters comparing the procedure to murder, that she realised this was not an abortion provider – its purpose was to talk her out of her decision.In many US states, BBC News has seen misleading websites advertising these clinics appearing high up in Google search results – and Facebook adverts with inaccurate medical advice – while genuine abortion providers are having their ads rejected and accounts restricted. Advice centres, such as the one visited by Hana, are often run by Christian organisations.They may offer some medical services such as pregnancy tests and ultrasounds – but some of their online promotion falsely suggests they also provide pregnancy-termination services.’Get care’Hana describes herself as a “nerdy researcher”, studying a health-related course at college – but nothing about the clinic’s website tipped her off to the service it actually provides. The home page says: “Take control – start with a free abortion consultation.” And in a tab labelled: “Get care,” it lists the types of abortion (medical and surgical) that can be performed during different trimesters of pregnancy, under the heading: “You just found out you’re pregnant and want to know your options.”Once there, Hana says, she was told, inaccurately, abortions were linked to infertility and breast cancer – and having had a Covid-19 vaccine, she might lose the pregnancy anyway, making abortion unnecessary, despite the evidence suggesting vaccinated people are no more likely to miscarry and, in fact, better protected against the risks of pre-term and still birth associated with Covid.She was also pressured to view the ultrasound scan against her wishes. “What kind of mother doesn’t want to see a picture of their child?” asked the person attending to her.Hana was left feeling deceived and betrayed. ‘Choose life’The Human Coalition, an anti-abortion group providing marketing for the centre and more than 40 others, told BBC News: “We find in our work, most abortion-determined women do not desire an abortion, they desire help.”We’re here to empower women by filling that gap – connecting women to the care and support they want, to choose life.”Image source, Contributor’s own photoGoogle displays adverts above search results for certain terms. Advertisers bid to have their ads appear first, Google says, although the order should also be determined by “relevance” and “overall quality”. But, Whitney Chinogwenya, of MSI Reproductive Choices (formerly Marie Stopes international) says, this creates a “battle of budgets”, with regulated abortion clinics competing with anti-abortion clinics or unregulated pill providers for ad space on specific search terms. Several large global abortion providers have also told BBC News they regularly have their online material referring to abortion censored without explanation, including having YouTube channels suspended, social-media accounts restricted and Facebook and Google ads rejected. In 2019, having been criticised for hosting misleading adverts, Google tried to crack down on abortion-advice clinics, which are most common in the US but can also be found across Europe (including the UK), Africa and Latin America. In the US, UK and Ireland, anyone running an ad mentioning abortion must first apply for a certificate. Ads from advice clinics not offering abortions can still run but will be given a disclaimer the advertiser “does not provide abortions”.Image source, Hana/GoogleHana says she did not see this disclaimer.It appears in very small font underneath the search headline and description. Sarah Eagan, a researcher for campaign group the Center for Countering Digital Hate, questions whether Google should be taking money at all for anti-abortion ads that target keywords used by people actively seeking terminations.The CCDH has also found anti-abortion ads promoting unproven medicines remaining on Facebook.And at the other end of the spectrum, the researchers found Google’s autocomplete function suggesting ineffective do-it-yourself abortion methods.Kelly, like Hana, says she was given inaccurate medical information as she struggled to find an affordable and safe way to terminate her pregnancy in her home state of Texas. What is Roe v Wade ruling on abortion? What happens if Roe v Wade is overturnedImage source, Getty ImagesBetween jobs and without insurance, she could not afford “an actual doctor’s visit” so searched for affordable clinics. Finding her way to an anti-abortion centre, Kelly says she was frightened with warnings she could “bleed out” and risk her life but not given the context medical abortion is an extremely safe procedure.Kelly feels promoting free pregnancy tests targets low-income women.The centre appears to be using organic search, not adverts, making it more complicated to regulate. It says its website clearly states: “We do not refer or perform abortions,” adding it provides “free services annually to over 5,000 minority poor under-served single mothers”. Image source, Getty ImagesEventually, Kelly was prescribed termination drugs – just hours before she passed the 12-week limit for a safe medical abortion. But Elisa Wells, co-founder of Plan C, the organisation that helped Kelly access these abortion pills, says its online material is routinely “disallowed for violating community standards” on Facebook, Instagram and Google. Google says it has clear policies governing abortion-related ads, some determined by local laws and regulations.Some of the posts and channels flagged by BBC News had been removed in error and since reinstated, it said.Facebook said it had restored a small number of incorrectly rejected ads for abortion providers.Read more from Reality CheckSend us your questions

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F.D.A. and Abbott Reach Agreement on Baby Formula to Try to Ease Shortage

The company said if the agency approved reopening the plant, production could resume and store shelves would be restocked within several weeks.The Food and Drug Administration on Monday reached an agreement with Abbott Laboratories on the steps needed to reopen the company’s shuttered baby formula plant, which could begin to ease the shortage of infant formula that has frightened and exasperated parents nationwide.The F.D.A. must still grant approval, once the company has taken the steps, for production to resume at the plant in Sturgis, Mich. It has been shut down since February after several babies who had consumed formula that had been produced there fell ill and two died.Abbott described the agreement with the F.D.A. as a “consent decree” and said it would require federal court approval. Once the agency permits the plant to reopen, the company said production could begin within about two weeks and could translate to more formula on shelves in six to eight weeks. The company said it will continue flying formula in from a plant in Ireland.It was unclear how soon the F.D.A. might approve the plant reopening.Abbott’s plant has been offline since February, when the F.D.A. discovered a deadly bacteria, called cronobacter, while swabbing in and near production lines. Abbott disputed that characterization, saying the bacteria were found in “high care” areas that indicate proximity to open products, but not necessarily in or on the production lines themselves.The same type of bacteria has been linked to four recent infant illnesses and two deaths in Minnesota, Texas and Ohio. Abbott said “there is no conclusive evidence to link Abbott’s formulas to these infant illnesses.”The plant shutdown exacerbated an existing supply crisis, as parents rushed to stock up on formula. With store shelves bare in some communities, some have been so desperate they have fed their infants powdered oatmeal cereal and fruit juice, even though pediatricians say formula or breast milk is a crucial source of nutrition from birth to the first birthday.In addition to the F.D.A.’s actions, Representative Rosa DeLauro, a Democrat from Connecticut, said in an interview on Monday that she planned to introduce a bill that would ease the process of importing infant formula from F.D.A.-regulated foreign plants. She also said she plans to hold hearings in the House to review what went wrong in the run-up to the discovery of the bacteria and shortages.“Both the company and the F.D.A. have got to be held accountable in order to move forward,” Ms. DeLauro said. She said she had called for investigation by the Health and Human Services inspector general, and invited Abbott to testify at a hearing set for May 25.Problems at the Abbott Sturgis plant surfaced in September during the F.D.A.’s first routine inspection there since the Covid-19 pandemic began. Inspectors discovered standing water inside the plant and personnel working directly with formula without proper hand hygiene, according to agency documents.The following month, a whistleblower who worked at the plant filed a complaint under the Food Safety Modernization Act claiming that plant leaders celebrated concealing information from the F.D.A. and omitted key information from official documents.The F.D.A. returned to the plant on Jan. 31 and discovered persistent problems, including the presence of cronobacter bacteria near production lines, according to agency records.The F.D.A. and Abbott shut down manufacturing and issued a wide-ranging recall of Abbott’s infant formula on Feb. 17. Since then, supplies have dwindled in stores, setting parents on frantic trips to find formula to feed their babies, some of whom reject a new or unfamiliar taste.On Monday morning, the F.D.A. commissioner, Dr. Robert. M Califf, said on CNN that the agency was working on the supply chain to get the needed formula back on store shelves.Navigating the Baby Formula Shortage in the U.S.Card 1 of 6A growing problem.

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Stimulating brain circuits promotes neuron growth in adulthood, improving cognition and mood

We humans lose mental acuity, an unfortunate side effect of aging. And for individuals with neurodegenerative conditions such as Alzheimer’s and Parkinson’s, the loss of cognitive function often accompanied by mood disorders such as anxiety is a harrowing experience. One way to push back against cognitive decline and anxiety would be to spur the creation of new neurons. For the first time, University of North Carolina School of Medicine scientists have targeted a specific kind of neuron in mice to increase the production of neural stem cells and spur on the creation of new adult neurons to affect behavior.
Targeting these cells, as reported in the journal Nature Neuroscience, modulated memory retrieval and altered anxiety-like behaviors in mice. Essentially, the UNC scientists boosted the electrical activity between cells in the hypothalamus and the hippocampus to create new neurons — an important process called neurogenesis.
“Targeting the hypothalamic neurons to enhance adult hippocampal neurogenesis will not only benefit brain functions,” said senior author Juan Song, PhD, associate professor of pharmacology, “but also holds the potential to treat cognitive and affective deficits associated with various brain disorders.”
Most neurons we carry for life were created before we were born and get organized during early childhood. But such neurogenesis continues into adulthood and throughout life. In fact, one of the reasons for cognitive decline and anxiety, and even diseases such as Alzheimer’s, is the suspension of neurogenesis.
Song, a member of the UNC Neuroscience Center, has been studying the detailed interplay between brain cells that keep neurogenesis chugging along. She knew that adult hippocampal neurogenesis plays a critical role in memory and emotion processing, and that neural circuit activity — think ‘electrical activity’ — regulates this process in a constantly changing manner.
What no one knew is whether this neural circuit activity could be manipulated to spur neurogenesis to such a degree that the effect would be seen as a changed behavior, such as better memory or less anxiety.
To see the effect of modulating neural activity, the Song lab conducted experiments led by co-first authors Ya-Dong Li, PhD, and Yan-Jia Luo, PhD, both postdoctoral fellows. They used optogenetics — essentially a method using light to trigger neuronal activity — in a small brain structure called supramammillary nucleus (SuM). The SuM is located inside the hypothalamus region of the brain; it helps manage things from cognition to locomotion and sleep/wakefulness.
When Song’s researchers chronically stimulated the SuM neurons, they discovered a robust promotion of neurogenesis at multiple stages. They observed increased production of neural stem cells and the creation of new adult-born neurons with enhanced properties. Optogenetic stimulation of these new neurons then altered memory and anxiety-like behaviors.
“We also show that the SuM neurons are highly responsive when the mice experienced new things in their environment,” Song said. “In fact, in a new environment, mice require these cells for neurogenesis.”
Impaired adult hippocampal neurogenesis correlates with many pathological states, such as aging, neurodegenerative diseases, and mental disorders. “Therefore,” Song added, “targeting the hypothalamic neurons to enhance adult hippocampal neurogenesis will not only benefit brain functions but also holds the potential to treat cognitive and affective deficits associated with various brain disorders.”
Other authors are Ze-Ka Chen, Luis Quintanilla, and Libo Zhang at UNC-Chapel Hill; Yoan Cherasse and Michael Lazarus at University of Tsukuba, Japan,; and Zhi-Li Huang from Fudan University, China.
This research was funded through National Institutes of Health, the Alzheimer’s Association, and NARSAD Young Investigator Award from the Brain & Behavior Research Foundation.

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New Research Offers Clues as to Why Some Babies Die of SIDS

The study could pave the way for newborn screening — but the results still need to be corroborated by further research.Scientists in Australia have found that some babies at risk of sudden infant death syndrome, or SIDS, have low levels of an enzyme called butyrylcholinesterase (BChE) in their blood. Their study, published May 6 in the journal eBioMedicine, could pave the way for newborn screening and interventions if the results are corroborated by further research.“It’s the first time we’ve ever had a potential biomarker for SIDS,” said Dr. Carmel Harrington, who led the research at the Children’s Hospital at Westmead, in Sydney, Australia.Researchers have been trying to chip away at the biological underpinnings of the puzzling syndrome for decades. And while public health campaigns have drastically reduced the incidence of SIDS, it remains a leading cause of sudden and unexpected death in infants under the age of 1 in Western countries. In the United States, about 3,400 babies die suddenly and unexpectedly each year, according to the Centers for Disease Control and Prevention. This includes infants who die suddenly from a known cause, such as suffocation, as well as those who die without a clear cause, such as from SIDS. Nearly half of the sudden and unexpected infant death (SUID) cases in the U.S. are due to SIDS.What the new study foundOne of the reasons that SIDS remains so tragic and mysterious is because it is likely not caused by a single biological mechanism, but a combination of factors that come together in a perfect storm, said Dr. Thomas Keens, a pediatric pulmonologist at Children’s Hospital Los Angeles. Previous studies have pointed to low activity or damage in parts of infants’ brains that control heart rate, breathing and arousal from sleep, for instance, as well as to environmental stressors such as soft bedding or secondhand smoke.“The thinking among researchers is that some babies die from SIDS because they don’t wake up in response to a dangerous situation when they’re asleep,” Dr. Keens said.To test if there were something inherently different in SIDS babies, Dr. Harrington and her colleagues compared dried blood samples from the newborn heel prick test of 655 healthy babies, 26 babies who died from SIDS and 41 babies who died in from another cause. They found that about nine out of ten babies who died of SIDS had significantly lower BChE levels than did the babies in the other two groups.“I was just stunned,” said Dr. Harrington, who has been searching for clues and crowdfunding for her research for nearly 30 years, ever since she lost one of her own children to SIDS. “Parents of SIDS babies carry a huge amount guilt because essentially their child died on their watch. But what we’ve found with this study is that these infants are different from birth, the difference is hidden and nobody knew about it before now. So it’s not parents’ fault.”The new findings add support to researchers’ hypothesis that babies who die from SIDS have problems with arousal, said Dr. Richard Goldstein, a pediatric palliative care specialist at Boston Children’s Hospital. BChE plays a role in the availability of important neurotransmitters in the brain’s arousal pathway. Low levels of the enzyme could indicate that the brain is not able to send out signals telling a baby to wake up and turn her head or gasp for breath. “But we need a lot more research before we can understand its actual significance,” Dr. Goldstein said.What parents should knowWhile the study identifies an important chemical marker in a small group of infants, it is too soon to say if widespread testing for BChE will be helpful.For one, scientists and doctors do not know what a “normal” level of the enzyme looks like. And because the Australian researchers did not have access to fresh blood samples for BChE, they did not measure absolute levels of the enzyme. There was also overlap between the infants. Some of the babies who died from SIDS had BChE levels within the same range as the babies who did not die.“If you’re going to test every baby who’s born, you want the results to stand out as abnormal only for babies who are at very high risk,” Dr. Keens said. Even if further studies helped fine-tune the test for BChE to accurately distinguish between babies who might die from SIDS and those who might go on to live healthy lives, doctors and parents would still be faced with a dilemma: What to do next? Currently, there is no intervention or treatment for low BChE levels.Much of the advice for preventing SIDS remains the same, Dr. Keens said. Make sure that you follow safe sleep recommendations like laying your baby down on her back — both at nap time and at night. Remove loose sheets, blankets, pillows, bumper pads and soft toys from your baby’s sleep area. And consider keeping your baby in the same room as you at night for at least six months, or, ideally, until your baby turns a year old.The American Academy of Pediatrics also recommends avoiding exposure to smoke, alcohol and illicit drugs during pregnancy; breastfeeding; immunizing routinely; and using a pacifier to reduce the risk of SIDS.

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Boost in nerve-growth protein helps explain why running supports brain health

Exercise increases levels of a chemical involved in brain cell growth, which bolsters the release of the “feel good” hormone dopamine, a new study shows. Dopamine is known to play a key role in movement, motivation, and learning.
Experts have long understood that regular running raises dopamine activity in the brain and may protect nerve cells from damage. In addition, past research has tied exercise-driven boosts in the dopamine-triggering chemical called brain-derived neurotrophic factor (BDNF) and in dopamine levels to improvements in learning and memory. However, the precise way these three factors interact has until now remained unclear.
Led by researchers at NYU Grossman School of Medicine, the investigation showed that mice running on a wheel for 30 days had a 40% increase in dopamine release in the dorsal stratium, the part of the brain involved in movement, compared to levels in mice that did not exercise. The runners also showed a nearly 60% increase in BDNF levels compared to their non-running counterparts. Notably, the increase in dopamine release remained elevated even after a week of rest. Additionally, when BDNF levels were artificially reduced, running did not lead to additional dopamine release.
“Our findings suggest that BDNF plays a key role in the long-lasting changes that occur in the brain as a result of running,” says study lead author and neurobiologist Guendalina Bastioli, PhD. “Not only do these results help explain why exercise makes you move, think, and feel better, they also show that these benefits continue even if you do not work out every day,” adds Bastioli, a postdoctoral fellow in the Department of Neuroscience at NYU Langone Health.
While researchers have previously measured dopamine activity during running, the new investigation provides insight into the longer-term behavior of the hormone and its effects on the brain well after exercise stops, according to Bastioli. The report is publishing online May 16 in the Journal of Neuroscience.
For the investigation, researchers provided dozens of male mice with unlimited access to either a freely rotating wheel or a locked wheel that could not move. After one month, the team measured dopamine release and BDNF levels in brain slices. They repeated this same process on a new group of rodents, some of which had been genetically modified to produce half as much BDNF as regular mice.
The study authors note that patients with Parkinson’s disease and other movement disorders are often treated with drugs that mimic dopamine’s effects on motor neurons. However, the mechanism behind dopamine’s role in this protective benefit of exercise had not been thoroughly explored.
“Our results help us understand why exercise alleviates the symptoms of Parkinson’s disease, as well as those of neuropsychiatric disorders such as depression,” says study senior author and neuroscientist Margaret Rice, PhD. “Now that we know why physical activity helps, we can explore it as a means of augmenting or even replacing the use of dopamine-enhancing drugs in these patients.”
Rice, a professor in the Departments of Neurosurgery and Neuroscience and Physiology at NYU Langone, cautions that while the preliminary findings in rodents were promising, future studies in humans will be required to fully understand the role of BDNF and dopamine in Parkinson’s disease.
She adds that the study team next plans to investigate the relationship between exercise and these chemicals in female mice, which notably run more frequently than males. In addition, the researchers intend to directly examine whether active mice indeed have improved motor skills compared with those with limited physical activity.
Funding for the study was provided by National Institute on Drug Abuse grant DA0510165. Further funding support was provided by the Marlene and Paolo Fresco Institute for Parkinson’s and Movement Disorders.
In addition to Bastioli and Rice, other NYU study investigators involved in the study were Moses Chao, PhD; Jennifer Arnold, PhD; Maria Mancini, PhD; Adam Mar, PhD; Begoña Gamallo-Lana, PhD; and Khalil Saadipour, PhD.

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New micro device injects a boost to IVF success

A research team led by the University of Adelaide, in partnership with medical technology company Fertilis, has delivered a ground-breaking new micro-device to streamline the only fertility treatment procedure available for men with low sperm counts.
The first-of-its-kind device will allow more IVF clinics to offer Intracytoplasmic Sperm Injection (ICSI) as a treatment, while several IVF procedures, such as embryo culture, embryo cryopreservation and in vitro maturation, will also be improved by using the device.
ICSI is a slow and difficult procedure which involves the injection of a single sperm into an egg for fertilisation, and it can only be carried out by experienced embryologists.
This new technology — smaller than a pinhead in size — holds up to 10 eggs in segregated positions for quicker injection, making it easier for embryologists to track and avoid the risk of errors.
Lead researcher Dr Kylie Dunning, from the University of Adelaide’s Robinson Research Institute, said the device will cut treatment time in half, require less training for embryologists with less expensive equipment than current ICSI treatment and improve access to the procedure for more patients.
“The development of this new, innovative approach is an important breakthrough for people wanting to start a family who haven’t been able to due to male infertility,” Dr Dunning said.

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Electronic skin: Physicist develops multisensory hybrid material

The “smart skin” developed by Anna Maria Coclite is very similar to human skin. It senses pressure, humidity and temperature simultaneously and produces electronic signals. More sensitive robots or more intelligent prostheses are thus conceivable.
The skin is the largest sensory organ and at the same time the protective coat of the human being. It “feels” several sensory inputs at the same time and reports information about humidity, temperature and pressure to the brain. For Anna Maria Coclite, a material with such multisensory properties is “a kind of ‘holy grail’ in the technology of intelligent artificial materials. In particular, robotics and smart prosthetics would benefit from a better integrated, more precise sensing system similar to human skin.” The ERC grant winner and researcher at the Institute of Solid State Physics at TU Graz has succeeded in developing the three-in-one hybrid material “smart skin” for the next generation of artificial, electronic skin using a novel process. The result of this pioneering research has now been published in the journal Advanced Materials Technologies.
As delicate as a fingertip
For almost six years, the team worked on the development of smart skin as part of Coclite’s ERC project Smart Core. With 2,000 individual sensors per square millimetre, the hybrid material is even more sensitive than a human fingertip. Each of these sensors consists of a unique combination of materials: an smart polymer in the form of a hydrogel inside and a shell of piezoelectric zinc oxide. Coclite explains: “The hydrogel can absorb water and thus expands upon changes in humidity and temperature. In doing so, it exerts pressure on the piezoelectric zinc oxide, which responds to this and all other mechanical stresses with an electrical signal.” The result is a wafer-thin material that reacts simultaneously to force, moisture and temperature with extremely high spatial resolution and emits corresponding electronic signals. “The first artificial skin samples are six micrometres thin, or 0.006 millimetres. But it could be even thinner,” says Anna Maria Coclite. In comparison, the human epidermis is 0.03 to 2 millimetres thick. The human skin perceives things from a size of about one square millimetre. The smart skin has a resolution that is a thousand times smaller and can register objects that are too small for human skin (such as microorganisms).
Material processing at the nanoscale
The individual sensor layers are very thin and at the same time equipped with sensor elements covering the entire surface. This was possible in a worldwide unique process for which the researchers combined three known methods from physical chemistry for the first time: a chemical vapour deposition for the hydrogel material, an atomic layer deposition for the zinc oxide and nanoprint lithography for the polymer template. The lithographic preparation of the polymer template was the responsibility of the research group “Hybrid electronics and structuring” headed by Barbara Stadlober. The group is part of Joanneum Research’s Materials Institute based in Weiz.
Several fields of application are now opening up for the skin-like hybrid material. In healthcare, for example, the sensor material could independently detect microorganisms and report them accordingly. Also conceivable are prostheses that give the wearer information about temperature or humidity, or robots that can perceive their environment more sensitively. On the path to application,smart skin scores with a decisive advantage: the sensory nanorods — the “smart core” of the material — are produced using a vapor-based manufacturing process. This process is already well established in production plants for integrated circuits, for example. The production of smart skin can thus be easily scaled and implemented in existing production lines.
The properties of smart skin are now being optimized even further. Anna Maria Coclite and her team — here in particular the PhD student Taher Abu Ali — want to extend the temperature range to which the material reacts and improve the flexibility of the artificial skin.
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Materials provided by Graz University of Technology. Original written by Susanne Filzwieser. Note: Content may be edited for style and length.

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Rare genetic variants not the major contributing factors to common diseases, study finds

Although some rare genetic variants can increase the risk of disease markedly for a few individuals, the genetic contribution to common diseases is mostly due to a combination of many common genetic variants with small effects. This is shown in a comprehensive study by researchers at Uppsala University and SciLifeLab, published in the journal Nature Communications.
It is known that genetic factors, together with lifestyle and environment, contribute to each individual’s vulnerability to common non-communicable diseases, such as cardiovascular diseases, inflammatory diseases and cancers. During the last 15 years, researchers in genetic epidemiology have successfully identified genes that contribute to heritability, i.e. the degree to which a given trait is inherited from parents to offspring through our genes. However, a significant fraction of the heritability has not yet been explained by the genetic variants identified. Until recently, high-throughput technologies for genetic analyses have been limited to a selection of genetic variants that are informative in any given human population.
However, in recent years, novel DNA sequencing technologies that enable researchers to study each individual position in the human genome have become available. It has been shown that a vast majority of the genetic variants are very rare, and sometimes even specific to a population. It is therefore plausible that previous genetic studies have overlooked a majority of the disease-causing genetic effects.
In the current study, the scientists used high-throughput next generation sequencing to characterise the genetic variation in a Swedish cohort of over 1,000 participants and linked the genetic variation to functional consequences that are mediated by proteins, the gene products.
“Proteins, the products of our genes, mediate the effects of our genes on disease risk. Therefore, characterising the link between variation at genetic and protein level is of great importance to understanding how genetic variation causes diseases,” says lead scientist Åsa Johansson, Docent at the Department of Immunology, Genetics and Pathology at Uppsala University and SciLifeLab.
Over four hundred proteins were targeted in the current study and the scientists showed that many proteins were influenced by genetic variation. It was evident that the rare mutations often have larger phenotypic effects on the proteome compared to common variants. However, precisely because they are so uncommon, rare variants do not appear to explain very much of the heritability. The results were also supported by theoretical computations and challenge some of the hypotheses that have existed in the field for some time.
“Surprisingly, even using statistical models developed to capture the effects of rare variants, very few associations were identified, in contrast to the associations for common variants,” says Marcin Kierczak, Docent at the Department of Cell and Molecular Biology at Uppsala University and bioinformatics expert at the National Bioinformatics Infrastructure, Sweden, who implemented the bioinformatics pipeline used in the analyses.
This suggests that the major component of the heritability of the proteome as well as downstream disease are due to a much larger degree to common variation than to rare variants. However, the heritability is a measure of the total burden of genetic contributions to a disease in the population, and the effect of rare variants at individual level could still be high.
“Even if our results showed that in the general population the major burden of common diseases is due to common variants, there are still individuals with rare variants that dramatically influence their risk of disease,” says Johansson.
“It is therefore important to highlight the usefulness of high-throughput sequencing technologies to increase our ability to identify those individuals who have a pronounced genetic risk of diseases and could be suitable for precision medicine interventions,” says Valeria Lo Faro, Research Assistant at the Department of Immunology, Genetics and Pathology at Uppsala University and SciLifeLab.
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Materials provided by Uppsala University. Note: Content may be edited for style and length.

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Deaths from alcohol use disorder surged during pandemic, study finds

Deaths involving alcohol use disorder increased dramatically during the pandemic, according to a new study by Cedars-Sinai investigators. The study also found that young adults 25 to 44 years old experienced the steepest upward trend in alcohol use disorder mortality.
In the study, published this month in the peer-reviewed journal JAMA Network Open, investigators used predictive modeling to compare expected — also called projected — alcohol use disorder mortality rates to actual rates. They found that alcohol use disorder-related mortality rates increased among all ages and sexes during the pandemic.
“During the first few months of the pandemic, my colleagues and I saw increased numbers of patients being treated for acute alcohol use-related conditions in the intensive care unit and through out the medical center,” said Yee Hui Yeo, MD, MSc, lead author of the study. “We also became aware of reports from single centers of elevated alcohol use-related complications. That prompted us to think, maybe this is a significant public health crisis.”
Investigators obtained de-identified mortality data for seven years — 2012-2019 — from a Centers for Disease Control and Prevention database that registers more than 99% of all deaths in the U.S. They then used predictive modeling to determine 2020 and 2021 projected mortality rates based on previous years’ trends, and compared those with the rates that were actually observed.
“What we found in our analysis reflects what we had been seeing anecdotally in our patients and in academic papers tracking complications like alcohol-related liver disease,” Yeo said.
Results include: In 2020, the observed alcohol use disorder-related deaths were about 25% higher than the projected rates. In 2021, the observed rates were about 22% higher than projected. The increase in predicted versus observed mortality was similar for both sexes — approximately 25% for women and men in 2020 versus 20% for women and 22% for men in 2021. Although the older adult group had the highest mortality rate throughout the study period, it was the younger group (ages 25-44 years) who suffered the greatest surge during the pandemic, which warrants public attention.”We also know that alcohol use disorder is often under-reported, so actual mortality rates related to alcohol use may be even higher than reported,” Yeo said.
The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, the reference that mental health professionals use to categorize mental health disorders, defines alcohol use disorder as “a problematic pattern of alcohol use leading to clinically significant impairment or distress, as manifested by at least two of the following, occurring within a 12-month period.”
The manual then lists 11 criteria, such as a craving or strong urge to use alcohol; recurring use of alcohol that results in a failure to fulfill obligations at school, work or home; and continued alcohol use despite having persistent social or interpersonal problems that are created or exacerbated by alcohol use.
“In publishing this article, we want everyone, especially policymakers and physicians on the front lines, to know that during the pandemic, there is really a significant surge in alcohol use disorder-related deaths,” Yeo said. “We also want to recognize that patients who die from alcohol use disorder-related causes tend to have social determinants of health, like lower socioeconomic status, that can make it harder for them to access healthcare and help. Finally, we want to make sure that patients who do seek treatment for alcohol or substance use have access to follow-up care to prevent secondary complications.”
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Materials provided by Cedars-Sinai Medical Center. Note: Content may be edited for style and length.

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Perception-based nanosensor platform could advance detection of ovarian cancer

Ovarian cancer kills 14,000 women in the United States every year. It’s the fifth leading cause of cancer death among women, and it’s so deadly, in part, because the disease is hard to catch in its early stages. Patients often don’t experience symptoms until the cancer has begun to spread, and there aren’t any reliable screening tests for early detection.
A team of researchers is working to change that. The group includes investigators from Memorial Sloan Kettering Cancer Center, Weill Cornell Medicine, the University of Maryland, the National Institutes of Standards and Technology, and Lehigh University.
Two recent papers describe their advancements toward a new detection method for ovarian cancer. The approach uses machine learning techniques to efficiently analyze spectral signatures of carbon nanotubes to detect biomarkers of the disease and to recognize the cancer itself.
The first paper appeared in Science Advances in November.
“We demonstrated that a perception-based nanosensor platform could detect ovarian cancer biomarkers using machine learning,” says Yoona Yang, a postdoctoral research associate in Lehigh’s Department of Chemical and Biomolecular Engineering and co-first author of the paper along with Zvi Yaari, postdoctoral research fellow at Memorial Sloan Kettering Cancer Center in New York. The authors also included Ming Zheng, a research chemist at the National Institute of Standards and Technology, Anand Jagota, a professor of bioengineering and chemical and biomolecular engineering at Lehigh University, and Daniel Heller, associate member and head of the Cancer Nanotechnology Laboratory at Memorial Sloan Kettering Cancer Center.
Jagota, who also serves as associate dean of research for Lehigh’s College of Health, and Yang are members of Lehigh’s Nano | Human Interfaces Presidential Initiative, a multidisciplinary research initiative that aims to change the way we work with data and the sophisticated instruments of scientific discovery.

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