‘It was like rolling the dice, except for someone you’ve never met.’My husband and I were sitting in an Upper East Side office with deep-toned velvet couches and fluffy throw pillows, surrounded by photos of smiling babies, as the fertility doctor gave his spiel. He told us that after age 35, a woman’s chances of getting pregnant drop. Older women produce few normal embryos even with fertility treatment. But we’d have a healthy baby in our arms within a year — if we tested the embryos.By testing the chromosomes in my embryos, he said, we could weed out the abnormal embryos that may lead to miscarriage or a child with disabilities and only use viable ones.I’ve always been a late bloomer — I met my husband at 37 and married at 39. I was in good health but pushing 40, with diminishing egg count and quality. After six months of trying to conceive on our own, we wanted all the help we could get. My husband and I jumped at the embryo testing suggestion.After two long rounds of in vitro fertilization, we had five embryos, but the genetic testing deemed four of them “abnormal,” meaning they contained extra or missing chromosomes. Our fifth embryo, a girl, was what our genetic counselor called “mosaic,” meaning it had both abnormal and normal cells.Starting in the late 1990s, doctors testing fertilized eggs classified them as normal or abnormal, then added the classification “mosaic” in 2015. Mosaic embryos can be either low- or high-level, depending on the number of abnormal cells. Twenty percent of tested embryos are mosaic.Ours was a low-level mosaic embryo, with a few cells having an extra 22nd chromosome. Scientists are still trying to understand mosaicism, but this meant our embryo could be normal and lead to a healthy baby; she could have genetic abnormalities that would lead to miscarriage; or she could be born with congenital heart defects, asymmetrical development (meaning one side of her body could look like it was melting while the opposite side looked normal) or other disabilities that would cause her to use a wheelchair for life. It was like rolling the dice, except for someone you’ve never met.It turns out there are a lot of online communities for mosaic kids and their families, including one on Facebook dedicated specifically to mosaics with an extra 22nd chromosome. Some adults lived normal lives and only find they have mosaic +22 later in life. Some women who were pregnant with babies with mosaic +22 miscarried. Children — ranging from newborns to young adults — had varying developmental challenges.What scared me most was that in girls, the extra 22nd chromosome could cause infertility. I felt selfish for wanting her so desperately that I would allow her into the world without this same opportunity.We had to make a fast choice: do a third cycle of I.V.F., hoping to get a normal embryo, or risk transferring the mosaic. Should we first try the mosaic embryo or risk having more nonviable embryos to agonize over? Because of the risks to the fetus and the developmental challenges our baby might face, the genetic counselor advised us to not transfer.I had always hoped my future children wouldn’t be short like me. My husband, who sprouts freckles in the sun, hoped they would inherit my darker skin. Otherwise, we had no lofty dreams of them going to Harvard or making any “world’s most beautiful baby” list. We picked a dog that was the runt of the litter, with a lopsided face, because we thought she was modern art. But that’s a lot different from bringing a child into the world knowing it had a risk of living a difficult life.It was a lot to take in. I wasn’t scared that my life would be curtailed if I brought up a child with special needs — I was ready to dedicate myself to a child. But I worried that my wanting a child was blinding me to some of my potential shortcomings. Was I capable of giving up everything to concentrate on this person who would need me in ways I couldn’t even fathom yet? I was terrified that I couldn’t handle having a child with special needs and would take it out on her.I was also a little embarrassed that I cared so much about having a “perfect” baby that fit the standard 46-chromosome human body. Who was I to make this life and death decision for another human?But it turns out that I didn’t know as much as I thought I did. Because genetic tests of I.V.F. embryos are far from perfect.“Labs only test five cells from around 150 that make up the fertilized egg,” said Dr. Hugh Taylor, chairman of the Department of Obstetrics, Gynecology and Reproductive Sciences at the Yale School of Medicine. “We’re fooling ourselves if we think we have full information on an embryo based on those few cells.”A recently published study of 1,000 mosaic embryos found those that progressed into a late-term pregnancy and full term birth had similar odds of being born without any discernible genetic differences to a normal embryo. But there were no guarantees.I didn’t want to try another I.V.F. cycle. In late February 2020, we decided to transfer the embryo into my uterus — just in time for New York City to shut down during the pandemic.Five months later, I got a call from a physician who was filling in for my doctor; she canceled my appointment, claiming she was uncomfortable transferring a mosaic embryo. I was livid and overcome with grief.“The larger question that emerges with embryo testing is who gets to take on the risk of possibly bringing a child with potential disabilities into the world,” Dr. Taylor said. “The decision should not be left to physicians. Patients should be given the freedom to decide, and properly counseled in cases where there are abnormalities that will inevitably lead to death.”Parents I had met online described wheeling or driving their frozen abnormal and mosaic embryos in unwieldy metal tanks to other clinics when their physicians refused to transfer. Fortunately, my regular doctor came back and scheduled a new appointment for the following month.My husband and I got lucky. Our beautiful, imperfect embryo attached to the uterine wall, mesmerizing us with her wild beating heart at biweekly ultrasounds. As each week brought on fresh worries — that I could miscarry, that the baby might have other abnormalities not caught at embryo testing — I found comfort in Dr. Taylor’s words: “Mosaicism is more common than we think. Many of us are mosaic without knowing it.”At three months, my doctor recommended a blood test that checked the baby’s DNA fragments in my blood to see if she was at risk for genetic abnormalities. At this point, my husband and I had begun to notice families in the dog park whose children had genetic disabilities. We quietly found acceptance that we would add variety to the families in our community and decided that we wouldn’t terminate the baby — no matter the result.They came back as normal. But like embryo testing, the blood test couldn’t diagnose a fetus’s genetic condition with certainty. Our doctor offered a more accurate amniocentesis test, but we had already made our decision. I decided to leave it there.Now, during ultrasounds, our daughter hides her face behind her hands or presses hard against the placenta, as if asking us to let her grow in privacy. The last time I glimpsed her full profile, at five months gestation, her nose, long and sharp, was prominent and unmistakable. I wondered if it was one of the characteristics of the extra 22nd chromosome or if she’d simply inherited my husband’s nose. As my due date draws nearer, her genetic profile is less of a concern. I’m thrilled we’ve made it this far.Jacquelynn Kerubo is a writer and public health communicator.

“I can’t do this anymore,” Sonia Sein told herself, her family and her doctor.For six years, she had endured a tube inserted in her windpipe, or trachea, to keep her alive, but her discomfort and distress were becoming more and more unbearable.Largely confined to her Bronx apartment, she needed home health aides and had to quit her career as a social worker for pregnant women. If she talked for over five minutes, she had to stop “because I couldn’t breathe.”The tube was necessary because her trachea — the airway leading to the lungs — had become damaged after she spent weeks on a ventilator for a severe asthma attack in 2014. She had subsequently undergone six major surgeries and more than 10 smaller procedures, but with all conventional approaches to address her condition exhausted, she made plans to have the tube removed and receive only palliative care. “I don’t want to live like this,” she concluded.Today, Ms. Sein, 56, dances and plays tag with her grandchildren and plans to resume working, possibly as an acupuncturist. She says she feels she has been given a “chance of being alive one more time.”Her transformation follows a groundbreaking experimental procedure she underwent in January: the first time, medical experts believe, a donor trachea has been successfully directly transplanted into another person.The 18-hour procedure, conceived and led by Dr. Eric M. Genden Sr., chairman of otolaryngology-head and neck surgery at Mount Sinai Health System in New York, is a milestone because — unlike kidneys, hearts and lungs — the trachea has defied decades of transplantation attempts.“It’s very exciting,” said Dr. G. Alexander Patterson, a professor of surgery at Washington University in St. Louis, who was not involved in the case.Thousands of people in the United States alone develop trachea problems each year from burns, birth defects, tumors and extended intubation on ventilators. The coronavirus pandemic will most likely create more cases because many Covid-19 patients have needed weeks on ventilators.Hundreds of Americans are estimated to die each year because techniques like stents, surgery or lasers cannot heal their damaged tracheas, and they suffocate when airways narrow dangerously or collapse.“There was nothing anybody could do for these patients,” said Dr. Genden, who became captivated by the problem in medical school 30 years ago after a patient with a tracheal tumor died. Guided by several mentors, he delved into research and animal experiments, developing a transplant approach.Because immunosuppressant drugs are required to prevent rejection of the transplant, cancer patients would be eligible only if free of cancer for five years, Dr. Genden said. For other cases, though, doctors say the approach seems promising.“It’s very significant,” said Dr. Pierre Delaere, a professor of head and neck surgery at University Hospital Gasthuisberg in Belgium, a trachea specialist not involved in the case. Still, noting that previous attempts didn’t show documented success, he cautioned that longer-term results were needed before the technique should be embraced, adding, “Let’s see how it works and how you can do it in more patients.”The apparent success of Ms. Sein’s operation is also notable because the trachea field has been rocked for years by a sensational scandal.Ms. Sein speaking with Dr. Eric M. Genden Sr., left, who developed the pioneering procedure, and Dr. Sander S. Florman, director of Mount Sinai’s Transplantation Institute.Sarah Blesener for The New York TimesThat drama began about a decade ago when Dr. Paolo Macchiarini, working at Sweden’s famed Karolinska Institute, garnered headlines and accolades for replacing damaged tracheas with plastic tubes seeded with patients’ stem cells that he cultivated in devices called bioreactors. The transplants, performed on patients from the United States and other countries, were heralded as inaugurating a regenerative medicine revolution.But of 20 patients, including children, most ultimately died, and scientists said Dr. Macchiarini misrepresented data and exaggerated his technique’s effectiveness.A Swedish filmmaker’s investigative documentary raised further questions, as did a Vanity Fair article detailing how the beguiling surgeon became romantically involved with an NBC producer working on a feature about him and apparently conned her into believing he was divorced and would marry her in a ceremony officiated by the pope and attended by the Clintons, Obamas, John Legend and Elton John.The Karolinska Institute, alleging scientific misconduct, dismissed Dr. Macchiarini, who has long denied wrongdoing. Journals retracted several of his studies. In 2019, an Italian court said he had forged documents and abused his position, charges unrelated to his trachea work. In September, a Swedish prosecutor indicted him on aggravated assault charges related to three trachea transplants. The case is pending.Dr. Genden said Dr. Macchiarini’s rise and fall profoundly affected his own path.“Here’s this handsome Italian surgeon at the finest institution in the world, the Karolinska, and he’s everything I’m not: He’s got a beautiful head of hair, he drives a motorcycle, he’s got an accent, he’s incredibly charismatic and dynamic,” Dr. Genden said. “He says, ‘I’ve created this bioreactor and it’s stem cells and it makes tracheas.’ And it’s huge.”Dr. Genden said that when he and colleagues questioned Dr. Macchiarini at a conference early on, “in his bigger-than-life way he says, ‘This is ridiculous, you don’t know what you’re talking about, it functions beautifully.’”Dr. Genden thought his work had “become obsolete, so you basically shut down the lab,” he said. “You can’t justify doing experimental surgery and immunosuppression when you see something else that looks perfect, so you realize, wow, we’re out of business.”As Dr. Macchiarini’s work drew criticism, Dr. Genden revived his idea, but was uncertain about trying it. The scandal meant “there’s an amazing amount of scrutiny,” he said. “We’re going to show up and say, ‘As a student, I had this idea on the back of a napkin and now we’re ready to go’ — and if it fails, the patient dies and it becomes yet another example of some surgeon who thought he could solve a problem and he’s created, instead, just the opposite.”There was another reason to be daunted too: historical assumptions that tracheas weren’t transplantable.“The trachea has been characterized as a simple tube, but it’s very complex,” Dr. Delaere said. About 11 centimeters (4⅓ inches) long, one side curves like a halfpipe, composed of cartilage rings and ligaments. The other side is flat and mobile to move air to the lungs.Video by Mount Sinai HospitalAny replacement trachea must be rigid or “it’ll collapse like a straw in a McDonald’s milkshake,” Dr. Genden said. It must be lined with cilia, hairlike projections “like shag carpeting” that move and clean the air we breathe in, he said. And it needs a blood supply to connect to the patient’s vascular system.Other trachea replacement attempts include transplanting part of a donor’s frozen, preserved aorta, the body’s main artery, and fabricating tracheas from patients’ own chest muscles and rib cartilage.“Some of them have been successful, but they’re cumbersome in different ways and they’re not a trachea,” Dr. Patterson said. “It’s kind of a marginal substitute, and many patients need further interventions to maintain their airways.”Dr. Delaere developed another innovative method, performed on nine patients so far: implanting a section of donor trachea in a patient’s forearm for weeks until it develops blood vessels and can replace part of the patient’s trachea. An advantage is that immunosuppressants are necessary only for several months, he said.But, he added, “It’s an indirect technique.” It takes time and can replace only the trachea’s halfpipe side, “so it’s not a complete tube.”Dr. Genden said some scientists told him “‘You’re out of your mind’” because trying a transplant would risk his reputation. But when Dr. Sander S. Florman, director of Mount Sinai’s Transplantation Institute, and LiveOnNY, a nonprofit organ donation organization, agreed to collaborate, his wife, Audrey, encouraged him.“My wife was the one who said, ‘If you truly believe that people are dying from this and that you could maybe make a difference, you can’t just fold up and go home,’” he said.The “secret sauce” in his approach, he said, is transplanting not just the donor trachea but also its attached esophagus (food tube), thyroid gland and thyroid arteries. That meant the donor trachea was accompanied by a blood supply that Dr. Genden connected to Ms. Sein’s blood vessels.Guided by a high-powered microscope, he used surgical thread half the diameter of a human hair. He opened and cleaned out the donor’s esophagus, laying it against Ms. Sein’s esophagus.“That was a very smart idea to help maintain the fragile blood supply of the airway by leaving the esophagus in place behind it,” Dr. Patterson said.Dr. Genden also transplanted the cricoid, cartilage cuffing the trachea, supplanting Ms. Sein’s completely destroyed cricoid. The nine-centimeter transplant replaced all but two centimeters of her trachea.The donor was a young man (identifying details are being withheld to protect privacy). The different gender was important, allowing Dr. Genden to use chromosomal analysis to detect whether Ms. Sein’s cells populated the new trachea. As of late March, 6.5 percent of cells in the donor trachea were hers, with the proportion increasing, he said.He hopes the immunosuppressant drugs, which can create health risks, can be reduced or even stopped “if the entire graft becomes filled with Sonia’s cells.”Ms. Sein’s trachea before, left, and her new transplanted trachea.Mount SinaiFor Ms. Sein, the procedure was a long-sought dream. In 2017, after another hospital said everything possible had been tried, she felt desperate.“I thought, ‘If they do a transplant for everything, they should do a transplant for trachea,’” she recalled. “I Googled ‘trachea transplant’ and Dr. Genden popped up. So I called and called till I got an appointment.”Dr. Genden said Ms. Sein beseeched him for the transplant, saying, “‘You need to do this for me or I’m going to end my life.’”After realizing other treatment methods wouldn’t help, he concluded that Ms. Sein had a “logical, thoughtful” grasp of transplantation’s risks and of her health condition. He understood how difficult her life had become.At night, when she connected her tracheal tube to a ventilator, “the alarm kept going off to let people know that I stopped breathing,” said Ms. Sein, who hated causing her family concern.Because mucus would clog her tube, “she was constantly suctioning, constantly worried about her airway, and it becomes overwhelming,” Dr. Genden said, like being held down in a swimming pool. “You start to panic because you can’t breathe.”By early 2020, ethical approvals were in place, but the coronavirus pandemic held things up. By this year, Dr. Genden said, her condition had deteriorated so that “if we delay further, it’s not going to work out.”On Jan. 12, Dr. Genden got a call: An appropriate donor had died. The next morning, with the donor and Ms. Sein in adjacent rooms, a team of over 50 medical personnel assembled.“I had a brave face, but I was scared,” Ms. Sein said. She considered backing out.“You got this?” she asked Dr. Genden.“He said ‘yeah,’ so I said ‘Let’s go for it.’”After extracting the donor’s organs, “you go next door and you open up Sonia and you remove the diseased trachea, and there is no going back,” Dr. Genden said. “It’s like when you get on a rocket ship.”At times, he felt “in a dreamlike state,” he said. When the blood vessels were finally connected, the donor trachea began bleeding. “This thing came to life,” Dr. Genden marveled, “and we were like, ‘Holy smokes, we’ve done it.’”Photographs document Ms. Sein’s trachea transformation: Her old windpipe looks raw and red, her new one smooth as porcelain.“I can breathe,” she was amazed to discover. “I could feel it in my lungs.”After several weeks in recovery, she is home. She visits Mount Sinai weekly for blood work. Dr. Genden examines the new trachea by inserting a scope in a hole he left in her neck, which he’ll eventually close.Recently, Ms. Sein, covering the hole with her hand to speak, enthused about having the energy to cook sesame chicken for the first time and how she aims to visit relatives in Puerto Rico. Next month, she will turn 57.“We would have been planning my funeral,” she said, “but now we’re planning a birthday party.”

Extended surges in the South and West in the summer and early winter of 2020 resulted in regional increases in excess death rates, both from COVID-19 and from other causes, a 50-state analysis of excess death trends has found. Virginia Commonwealth University researchers’ latest study notes that Black Americans had the highest excess death rates per capita of any racial or ethnic group in 2020.
The research, publishing Friday in the Journal of the American Medical Association, offers new data from the last 10 months of 2020 on how many Americans died during 2020 as a result of the effects of the pandemic — beyond the number of COVID-19 deaths alone — and which states and racial groups were hit hardest.
The rate of excess deaths — or deaths above the number that would be expected based on averages from the previous five years — is usually consistent, fluctuating 1% to 2% from year to year, said Steven Woolf, M.D., the study’s lead author and director emeritus of VCU’s Center on Society and Health. From March 1, 2020, to Jan. 2, 2021, excess deaths rose a staggering 22.9% nationally, fueled by COVID-19 and deaths from other causes, with regions experiencing surges at different times.
“COVID-19 accounted for roughly 72% of the excess deaths we’re calculating, and that’s similar to what our earlier studies showed. There is a sizable gap between the number of publicly reported COVID-19 deaths and the sum total of excess deaths the country has actually experienced,” Woolf said.
For the other 28% of the nation’s 522,368 excess deaths during that period, some may actually have been from COVID-19, even if the virus was not listed on the death certificates due to reporting issues.
But Woolf said disruptions caused by the pandemic were another cause of the 28% of excess deaths not attributed to COVID-19. Examples might include deaths resulting from not seeking or finding adequate care in an emergency such as a heart attack, experiencing fatal complications from a chronic disease such as diabetes, or facing a behavioral health crisis that led to suicide or drug overdose.

A team led by a biomedical scientist at the University of California, Riverside, has developed a new RNA-sequencing method — “Panoramic RNA Display by Overcoming RNA Modification Aborted Sequencing,” or PANDORA-seq — that can help discover numerous modified small RNAs that were previously undetectable.
RNA plays a central role in decoding the genetic information in DNA to sustain an organism’s life. It is generally known as the intermediate molecule used to synthesize proteins from DNA. Cells are full of RNA molecules in complex and diverse forms, two main types being ribosomal RNA, or rRNA; and transfer RNA, or tRNA; which are involved in the synthesis of proteins.
Small RNAs play essential roles in health and diseases, including cancer, diabetes, neurological diseases, and infertility. Examples of small RNAs are microRNA; piwi-interacting RNA, or piRNA; and tRNA-derived small RNA, or tsRNA. Small RNAs can get modified by chemical groups and thus acquire new functions.
The development of high-throughput RNA sequencing technologies — useful for examining the quantity and sequences of RNA in a biological sample — has uncovered an expanding repertoire of small RNA populations that fine-tune gene expression and protect genomes.
“PANDORA-seq can be widely used to profile small RNA landscapes in various physiological and disease conditions to facilitate the discovery of key regulatory small RNAs involved in these conditions,” said Qi Chen, an assistant professor of biomedical sciences in the UCR School of Medicine, who led the study published today in Nature Cell Biology. “Modified small RNAs wear an ‘invisibility cloak’ that prevents them from being detected by traditional RNA-sequencing methods. How many such modified RNAs are there? What is the origin of their sequences? And what exactly is their biological function? These are questions PANDORA-seq may be able to answer.”
PANDORA-seq employs a stepwise enzymatic treatment to remove key RNA modifications, which then takes off the invisibility cloak used by the modified small RNAs.

A new study from the University of Central Florida suggests that masks and a good ventilation system are more important than social distancing for reducing the airborne spread of COVID-19 in classrooms.
The research, published recently in the journal Physics of Fluids, comes at a critical time when schools and universities are considering returning to more in-person classes in the fall.
“The research is important as it provides guidance on how we are understanding safety in indoor environments,” says Michael Kinzel, an assistant professor in UCF’s Department of Mechanical and Aerospace Engineering and study co-author.
“The study finds that aerosol transmission routes do not display a need for six feet social distancing when masks are mandated,” he says. “These results highlight that with masks, transmission probability does not decrease with increased physical distancing, which emphasizes how mask mandates may be key to increasing capacity in schools and other places.”
In the study, the researchers created a computer model of a classroom with students and a teacher, then modeled airflow and disease transmission, and calculated airborne-driven transmission risk.
The classroom model was 709 square feet with 9-foot-tall ceilings, similar to a smaller-size, university classroom, Kinzel says. The model had masked students — any one of whom could be infected — and a masked teacher at the front of the classroom.

A new study shows that youth arrested as juveniles with psychiatric disorders that remain untreated, struggle with mental health and successful outcomes well beyond adolescence.
Research from Northwestern Medicine shows nearly two-thirds of males and more than one-third of females with one or more existing psychiatric disorders when they entered detention, still had a disorder 15 years later.
The findings are significant because mental health struggles add to the existing racial, ethnic and economic disparities as well as academic challenges from missed school, making a successful transition to adulthood harder to attain.
“Kids get into trouble during adolescence. Those from wealthier families also use drugs and get into fights. But these situations are most often handled informally by the school and parent, and don’t culminate in arrest and detention,” said lead author Linda Teplin, Owen L. Coon Professor of psychiatry and behavioral sciences at Northwestern University Feinberg School of Medicine.
“These are not necessarily bad kids, but they have many strikes against them. Physical abuse, sexual abuse and neglect are common. These experiences can precipitate depression. Incarceration should be the last resort,” said Teplin, also a faculty associate with the University’s Institute for Policy Research.
The unprecedented longitudinal study reports on the prevalence, persistence and patterns of behavioral and psychiatric disorders in youth up to 15 years after they leave detention and whether outcomes vary by sex and race/ethnicity.

A team led by scientists at the Perelman School of Medicine at the University of Pennsylvania has illuminated the functions of mysterious structures in cells called “nuclear speckles,” showing that they can work in partnership with a key protein to enhance the activities of specific sets of genes.
The discovery, which will be published on April 5 in Molecular Cell, is an advance in basic cell biology; the key protein it identifies as a working partner of speckles is best known as major tumor-suppressor protein, p53. This avenue of research may also lead to a better future understanding of cancers, and possibly better cancer treatments.
“This study shows that nuclear speckles work as major regulators of gene expression, and suggests that they have a role in some cancers,” said study senior author Shelley Berger, PhD, the Daniel S. Och University Professor in the Department of Cell and Developmental Biology.
Nuclear speckles, tiny structures within the nucleus of every mammalian cell, were first observed with a microscope in 1910, but in the ensuing 111 years, scientists have discovered little about their functions.
One early theory was that the speckles are essentially storage depots, since they do contain important molecules needed to copy out the DNA in genes into RNA transcripts and then to process those transcripts into the finished “messenger RNAs” that can be translated into proteins. In recent years, scientists have begun to find evidence that speckles play a more direct role in gene transcription.
Nevertheless, identifying their precise functions and how those are regulated has been difficult, due to the basic challenges of studying speckles.
In the study, Berger and colleagues, including first author Katherine Alexander, PhD, a postdoctoral researcher in the Berger Laboratory who did most of the experiments, overcame some of these challenges to reveal that speckles work with p53 to directly enhance the activity of certain genes.
While p53 has long been known as a “transcription factor” or master switch that controls the activity of a broad set of genes, the researchers showed that it exerts this effect on a subset of its target genes via nuclear speckles. The protein acts as a matchmaker, bringing together speckles and DNA containing these target genes. When the speckles and genes get close, the level of transcription of the genes jumps significantly.
The researchers went even further to show that the p53 target genes whose activity is boosted via speckles have a set of functions that are broadly distinct from those of other p53 target genes.
“Speckle-associated p53 target genes, compared to other p53 target genes, are more likely to be involved in tumor-suppressing functions such as stopping cell growth and triggering cell suicide,” Alexander said.
These findings not only confirm nuclear speckles as enhancers of gene activity, but also implicate them in the functions of a key tumor-suppressor protein, which is known to be disrupted in about half of all cancers. In some cancers, p53 is mutated in a way that causes it not only to lose its tumor-suppressor function but also to actively drive cancerous growth. The researchers are now working to determine if nuclear speckles are involved in mediating this cancer-driving effect of mutant p53.
“If that proves to be the case,” Berger said, “then in principle we could develop treatments to interfere with this association between p53 and speckles — an association that might turn out to be a real Achilles heel for cancer.”

An interdisciplinary team led by KU Leuven and Stanford has identified 76 overlapping genetic locations that shape both our face and our brain. What the researchers didn’t find is evidence that this genetic overlap also predicts someone’s behavioural-cognitive traits or risk of conditions such as Alzheimer’s disease. This means that the findings help to debunk several persistent pseudoscientific claims about what our face reveals about us.
There were already indications of a genetic link between the shape of our face and that of our brain, says Professor Peter Claes from the Laboratory for Imaging Genetics at KU Leuven, who is the joint senior author of the study with Professor Joanna Wysocka from the Stanford University School of Medicine. “But our knowledge on this link was based on model organism research and clinical knowledge of extremely rare conditions,” Claes continues. “We set out to map the genetic link between individuals’ face and brain shape much more broadly, and for commonly occurring genetic variation in the larger, non-clinical population.”
Brain scans and DNA from the UK Biobank
To study genetic underpinnings of brain shape, the team applied a methodology that Peter Claes and his colleagues had already used in the past to identify genes that determine the shape of our face. Claes: “In these previous studies, we analysed 3D images of faces and linked several data points on these faces to genetic information to find correlations.” This way, the researchers were able to identify various genes that shape our face.
For the current study, the team relied on these previously acquired insights as well as the data available in the UK Biobank, a database from which they used the MRI brain scans and genetic information of 20,000 individuals. Claes: “To be able to analyse the MRI scans, we had to measure the brains shown on the scans. Our specific focus was on variations in the folded external surface of the brain — the typical ‘walnut shape’. We then went on to link the data from the image analyses to the available genetic information. This way, we identified 472 genomic locations that have an impact on the shape of our brain. 351 of these locations have never been reported before. To our surprise, we found that as many as 76 genomic locations predictive of the brain shape had previously already been found to be linked to the face shape. This makes the genetic link between face and brain shape a convincing one.”
The team also found evidence that genetic signals that influence both brain and face shape are enriched in the regions of the genome that regulate gene activity during embryogenesis, either in facial progenitor cells or in the developing brain. This makes sense, Wysocka explains, as the development of the brain and the face are coordinated. “But we did not expect that this developmental cross-talk would be so genetically complex and would have such a broad impact on human variation.”
No genetic link with behaviour or neuropsychiatric disorders
At least as important is what the researchers did not find, says Dr Sahin Naqvi from the Stanford University School of Medicine, who is the first author of this study. “We found a clear genetic link between someone’s face and their brain shape, but this overlap is almost completely unrelated to that individual’s behavioural-cognitive traits.”
Concretely: even with advanced technologies, it is impossible to predict someone’s behaviour based on their facial features. Peter Claes continues: “Our results confirm that there is no genetic evidence for a link between someone’s face and that individual’s behaviour. Therefore, we explicitly dissociate ourselves from pseudoscientific claims to the contrary. For instance, some people claim that they can detect aggressive tendencies in faces by means of artificial intelligence. Not only are such projects completely unethical, they also lack a scientific foundation.”
In their study, the authors also briefly address conditions such as Alzheimer’s, schizophrenia, and bipolar disorder. Claes: “As a starting point, we used the results that were previously published by other teams about the genetic basis of such neuropsychiatric disorders. The possible link with the genes that determine the shape of our face had never been examined before. If you compare existing findings with our new ones, you see a relatively large overlap between the genetic variants that contribute to specific neuropsychiatric disorders and those that play a role in the shape of our brain, but not for those that contribute to our face.” In other words: our risk of developing a neuropsychiatric disorder is not written on our face either.
This research is a collaboration between KU Leuven, Stanford University School of Medicine, University of Pittsburgh, Pennsylvania State University, Indiana University Purdue University Indianapolis, Cardiff University, and George Mason University.
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Materials provided by KU Leuven. Note: Content may be edited for style and length.

Approximately 40,000 children in the United States may have lost a parent to COVID-19 since February 2020, according to a statistical model created by a team of researchers. The researchers anticipate that without immediate interventions, the trauma from losing a parent could cast a shadow of mental health and economic problems well into the future for this vulnerable population.
In the researchers’ model, for approximately every 13th COVID-related death, a child loses one parent. Children who lose a parent are at higher risk of a range of problems, including traumatic prolonged grief and depression, lower educational attainment, economic insecurity and accidental death or suicide, said Ashton Verdery, associate professor of sociology, demography and social data analytics and Institute for Computational and Data Sciences co-hire, Penn State.
“When we think of COVID-19 mortality, much of the conversation focuses on the fact that older adults are the populations at greatest risk. About 81% of deaths have been among those ages 65 and older according to the CDC (Centers for Disease Control and Prevention),” said Verdery, who is also an affiliate of the Population Research Institute at Penn State. “However, that leaves 19% of deaths among those under 65 — 15% of deaths are among those in their 50s and early 60s and 3% are among those in their 40s. In these younger age groups, substantial numbers of people have children, for whom the loss of a parent is a potentially devastating challenge.”
Three-quarters of the children who lost a parent are adolescents, but one quarter are elementary-aged children, Verdery said.
The statistics of parental death are grimmer for Black families, which have been disproportionately impacted by the pandemic, according to the researchers, who report their findings in today’s (April 5) issue of JAMA Pediatrics. The team estimated that 20% of the children who lost a parent are Black even though only 14% of children in the U.S. are Black.
The model also suggests that parental deaths due to COVID-19 will increase the country’s total cases of parental bereavement by 18% to 20% over what happens in a typical year, further straining an already stretched system that does not connect all children who are eligible to adequate resources.