UVA Health researchers have developed a powerful new risk assessment tool for predicting outcomes in heart failure patients. The researchers have made the tool publicly available for free to clinicians.
The new tool improves on existing risk assessment tools for heart failure by harnessing the power of machine learning (ML) and artificial intelligence (AI) to determine patient-specific risks of developing unfavorable outcomes with heart failure.
“Heart failure is a progressive condition that affects not only quality of life but quantity as well. All heart failure patients are not the same. Each patient is on a spectrum along the continuum of risk of suffering adverse outcomes,” said researcher Sula Mazimba, MD, a heart failure expert. “Identifying the degree of risk for each patient promises to help clinicians tailor therapies to improve outcomes.”
About Heart Failure
Heart failure occurs when the heart is unable to pump enough blood for the body’s needs. This can lead to fatigue, weakness, swollen legs and feet and, ultimately, death. Heart failure is a progressive condition, so it is extremely important for clinicians to be able to identify patients at risk of adverse outcomes.
Further, heart failure is a growing problem. More than 6 million Americans already have heart failure, and that number is expected to increase to more than 8 million by 2030. The UVA researchers developed their new model, called CARNA, to improve care for these patients. (Finding new ways to improve care for patients across Virginia and beyond is a key component of UVA Health’s first-ever 10-year strategic plan.)
The researchers developed their model using anonymized data drawn from thousands of patients enrolled in heart failure clinical trials previously funded by the National Institutes of Health’s National Heart, Lung and Blood Institute. Putting the model to the test, they found it outperformed existing predictors for determining how a broad spectrum of patients would fare in areas such as the need for heart surgery or transplant, the risk of rehospitalization and the risk of death.

The researchers attribute the model’s success to the use of ML/AI and the inclusion of “hemodynamic” clinical data, which describe how blood circulates through the heart, lungs and the rest of the body.
“This model presents a breakthrough because it ingests complex sets of data and can make decisions even among missing and conflicting factors,” said researcher Josephine Lamp, of the University of Virginia School of Engineering’s Department of Computer Science. “It is really exciting because the model intelligently presents and summarizes risk factors reducing decision burden so clinicians can quickly make treatment decisions.”
By using the model, doctors will be better equipped to personalize care to individual patients, helping them live longer, healthier lives, the researchers hope.
“The collaborative research environment at the University of Virginia made this work possible by bringing together experts in heart failure, computer science, data science and statistics,” said researcher Kenneth Bilchick, MD, a cardiologist at UVA Health. “Multidisciplinary biomedical research that integrates talented computer scientists like Josephine Lamp with experts in clinical medicine will be critical to helping our patients benefit from AI in the coming years and decades.”
Findings Published
The researchers have made their new tool available online for free at https://github.com/jozieLamp/CARNA.
In addition, they have published the results of their evaluation of CARNA in the American Heart Journal. The research team consisted of Lamp, Yuxin Wu, Steven Lamp, Prince Afriyie, Nicholas Ashur, Bilchick, Khadijah Breathett, Younghoon Kwon, Song Li, Nishaki Mehta, Edward Rojas Pena, Lu Feng and Mazimba. The researchers have no financial interest in the work.
The project was based on one of the winning submissions to the National Heart, Lung and Blood Institute’s Big Data Analysis Challenge: Creating New Paradigms for Heart Failure Research. The work was supported by the National Science Foundation Graduate Research Fellowship, grant 842490, and NHLBI grants R56HL159216, K01HL142848 and L30HL148881.
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Scientists have discovered a new insight into the genetic pathway of childhood cancer, offering new hope for tailored treatments.
Researchers from the University of Sheffield have created a stem cell model designed to investigate the origins of neuroblastoma, a cancer primarily affecting babies and young children.
Neuroblastoma is the most common childhood tumour occurring outside the brain, affecting the lives of approximately 600 children in the European Union and the United Kingdom each year.
Until now, studying genetic changes and their role in neuroblastoma initiation has been challenging due to the lack of suitable laboratory methods. A new model developed by researchers at the University of Sheffield, in collaboration with the St Anna Children’s Cancer Research Institute in Vienna, replicates the emergence of early neuroblastoma cancer-like cells, giving an insight into the genetic pathway of the disease.
The research, published in Nature Communications, sheds light on the intricate genetic pathways which initiate neuroblastoma. The international research team found that specific mutations in chromosomes 17 and 1, combined with overactivation of the MYCN gene, play a pivotal role in the development of aggressive neuroblastoma tumours.
Childhood cancer is often diagnosed and detected late, leaving researchers with very little idea of the conditions that led to tumour initiation, which occurs very early during fetal development. In order to understand tumour initiation, models which recreate the conditions that lead to the appearance of a tumour are vital.
The formation of neuroblastoma usually starts in the womb when a group of normal embryonic cells called ‘trunk neural crest (NC)’ become mutated and cancerous.

In an interdisciplinary effort spearheaded by stem cell expert Dr Ingrid Saldana from the University of Sheffield’s School of Biosciences and computational biologist Dr Luis Montano from the St Anna Children’s Cancer Research Institute in Vienna, the new study found a way in which to use human stem cells to grow trunk NC cells in a petri dish.
These cells carried genetic changes often seen in aggressive neuroblastoma tumours. Using genomics analysis and advanced imaging techniques, the researchers found that the altered cells started behaving like cancer cells and looked very similar to the neuroblastoma cells found in sick children.
The findings offer new hope for the creation of tailored treatments that specifically target the cancer while minimising the adverse effects experienced by patients from existing therapies.
Dr Anestis Tsakiridis, from the University of Sheffield’s School of Biosciences and lead author of the study, said: “Our stem cell-based model mimics the early stages of aggressive neuroblastoma formation, providing invaluable insights into the genetic drivers of this devastating childhood cancer. By recreating the conditions that lead to tumour initiation, we will be able to understand better the mechanisms underpinning this process and thus design improved treatment strategies in the longer term.
“This is very important as survival rates for children with aggressive neuroblastoma are poor and most survivors suffer from side effects linked to the harsh treatments currently used, which include potential hearing, fertility and lung problems.”
Dr. Florian Halbritter, from St. Anna Children’s Cancer Research Institute and second lead author of the study, said: “This was an impressive team effort, breaching geographic and disciplinary boundaries to enable new discoveries in childhood cancer research.”
This research supports the University of Sheffield’s cancer research strategy. Through the strategy, the University aims to prevent cancer-related deaths by undertaking high quality research, leading to more effective treatments, as well as methods to better prevent and detect cancer and improve quality of life.

Engineers at the University of California San Diego have discovered that some brain cells age more rapidly than others, and they are disproportionately abundant in individuals afflicted with Alzheimer’s disease. Additionally, researchers observed sex-specific differences in the aging process of certain brain cells, with the female cortex exhibiting a higher ratio of “old” oligodendrocytes to “old” neurons compared to the male cortex.
The discoveries were made possible by a new technique called MUSIC (multinucleic acid interaction mapping in single cells), which allows researchers to peek inside individual brain cells and map out interactions between chromatin — which is the tightly coiled form of DNA — and RNA. This technique enables researchers to visualize these interactions at single-cell resolution, as well as study how they influence gene expression.
The work is detailed in a paper published in Nature.
“MUSIC is a powerful tool that can allow us to dig deeper into the complexities of Alzheimer’s disease,” said study senior author Sheng Zhong, a professor in the Shu Chien-Gene Lay Department of Bioengineering at the UC San Diego Jacobs School of Engineering. “The technology has the potential to help us uncover novel molecular mechanisms underlying Alzheimer’s pathology, which could pave the way for more targeted therapeutic interventions and improved patient outcomes.”
The human brain houses a complex network of cells that communicate and interact in intricate ways. Within each of these cells lies a dynamic interplay of genetic components, including chromatin and RNA, which dictate crucial cellular functions. As brain cells grow and age, these interactions between chromatin and RNA change. And within each cell, these complexes can vary widely, especially in mature cells. However, unraveling the nuances of these interactions has remained a formidable challenge.
Enter MUSIC, a cutting-edge tool that offers a window into the inner workings of individual brain cells. Using MUSIC, Zhong’s team analyzed postmortem brain samples, specifically human frontal cortex tissues, obtained from 14 donors aged 59 years and older, some with Alzheimer’s disease and some without. They found that different types of brain cells exhibited distinct patterns of interactions between chromatin and RNA. Interestingly, cells with fewer short-range chromatin interactions tended to display signs of aging and Alzheimer’s disease.
“With this transformative single-cell technology, we discovered that some brain cells are ‘older’ than others,” said Zhong. Notably, individuals with Alzheimer’s disease had a higher proportion of these older brain cells compared to healthy individuals, he explained.

Researchers say the discovery could aid in the development of new treatments for Alzheimer’s disease.
“If we could identify the dysregulated genes in these aged cells and understand their functions in the local chromatin structure, we could also identify new potential therapeutic targets,” said study co-first author Xingzhao Wen, a bioinformatics Ph.D. candidate in Zhong’s lab.
The study also uncovered sex-specific differences in the aging of brain cells. In the cortex of female mice, researchers found a higher ratio of aged oligodendrocytes to aged neurons. Oligodendrocytes are a type of brain cell that provide a protective layer around neurons. Given their critical role in maintaining normal brain function, an increased prevalence of aged oligodendrocytes could potentially exacerbate cognitive decline.
“The disproportionate presence of old oligodendrocytes in the female cortex could shed new light on the increased risks of neurodegenerative and mental disorders observed in women,” said Wen.
Next, the researchers will work on further optimizing MUSIC so that they can use it to identify factors — such as regulatory genes and gene circuits — that are responsible for the accelerated aging observed in specific brain cells. “Subsequently, we will devise strategies to impede the activity of these genes or circuits, in the hopes of mitigating brain aging,” said Zhong.
This work is supported by the National Institutes of Health (DP1DK126138, R01GM138852, UH3CA256960, U01CA200147, R01HD107206) and by a Kruger Research grant.
Disclosure: Sheng Zhong is a founder and shareholder of Genemo, Inc. The remaining authors declare no competing interests.

Ribosomal DNA (rDNA) is present in hundreds of copies in the genome, but has not previously been part of genetic analyses. A new study of 500,000 individuals indicates that people who have more copies of rDNA are more likely to develop inflammation and diseases during their lifetimes.
Standard genetic analysis techniques have not studied areas of the human genome that are repetitive, such as ribosomal DNA (rDNA), a fundamental part of the molecular mechanism which makes proteins in cells. A new study, led by Vardhman Rakyan and Francisco Rodriguez-Algarra from Queen Mary University of London’s Blizard Institute in collaboration with David Evans from The University of Queensland’s Institute for Molecular Bioscience, has discovered that genetic disposition to disease can be found in these previously understudied areas of the genome. These results suggest that wider genome analysis could bring opportunities for preventative diagnostics, novel therapeutics, and greater insight into the mechanism of different human diseases.
In this study, co-funded by Barts Charity, Rosetrees Trust, and the Biotechnology and Biological Sciences Research Council (BBSRC), samples from 500,000 individuals in the UK Biobank project were analysed. Researchers used new whole genome sequencing (WGS) techniques to identify differences in numbers of copies of rDNA in each sample, and compared them with other health metrics and medical records.
The researchers found that the number of copies of rDNA in an individual showed strong statistical association with well-established markers of systemic inflammation — such as Neutrophil-to-Lymphocyte ratio (NLR), Platelet-to-Lymphocyte ratio (PLR), and Systemic Immune-Inflammation index (SII). These statistically significant associations were seen in the genomes of individuals of different ethnicities, suggesting a common indicator for risks of future disease.
rDNA copy number was also linked with an individual’s kidney function within the sample of individuals of European ancestry. A similar effect was seen in samples from other ancestries, but further research using larger sample sizes will be needed to confirm this connection.
Professor Vardhman Rakyan, from the Genomics and Child Health in the Blizard Institute at Queen Mary, said: “Our research highlights the importance of analysing the whole genome to better understand the factors impacting on our health. This study is also an example of how having access to large biobanks allows us to make unexpected discoveries, and provides new avenues for harnessing the power of genetics to understand human diseases.”
Professor David Evans, from The University of Queensland’s Institute for Molecular Bioscience, said: “Geneticists have long struggled to fully explain the genetic basis of many common complex traits and diseases. Our work suggests that at least part of this missing heritability resides in difficult to sequence regions of the genome such as those encoding ribosomal copy number variation.”
Victoria King, Director of Funding and Impact at Barts Charity, said: “We’re delighted to have supported this work which could lead to better prevention and treatment for many different diseases. Using samples from UK Biobank participants, this study highlights the exciting potential of examining previously overlooked areas of the genome.”

The protein galectin-1 (Gal-1) has been identified as a new PET imaging biomarker for immune checkpoint blockade (ICB) therapy, allowing physicians to predict the tumor responses before beginning treatment. Information garnered from Gal-1 PET imaging could also be used to facilitate patient stratification and optimize immunotherapy, enabling targeted interventions and improving patient outcomes. This research was published in the May issue of The Journal of Nuclear Medicine.
Immunotherapies, such as ICB, have produced promising clinical outcomes in melanoma, non-small cell lung cancer, and several other types of tumors. However, only a subgroup of patients experiences positive outcomes with objective response rates spanning between five and 60 percent.
“Developing reliable approaches for assessing responses and selecting eligible patients for immunotherapy remains challenging,” said Zhaofei Liu, PhD, Boya Distinguished Professor at Peking University in Beijing, China. “Current clinical criteria for monitoring solid tumor responses to immunotherapy are based on CT and MRI scans, but these methods result in a considerable delay between treatment commencement and response evaluation. Molecular imaging techniques, especially PET, have emerged as robust tools for predicting immunotherapy effectiveness through the real-time, quantitative, and noninvasive assessment of biomarkers in vivo.”
In the study, a mouse model was utilized to identify new imaging biomarkers for tumor responses to ICB therapy. Through a proteomic analysis (separation, identification, and quantification of proteins in a tumor), researchers found that tumors exhibiting low Gal-1 expression responded positively to ICB therapy.
Next, Gal-1 was labeled with 124I and the radiotracer (124I-α-Gal-1) and small animal PET imaging and biodistribution studies were conducted to assess the specificity of the radiotracer. PET imaging with 124I-αGal-1 showed the immunosuppressive status of the tumor microenvironment, thus enabling the prediction of ICB resistance in advance of treatment. For tumors that were not predicted to respond well to ICB therapy, researchers developed a rescue strategy that utilized a Gal-1 inhibitor that significantly improved the chance for success.
“Gal-1 PET opens avenues for the early prediction of ICB efficacy before treatment initiation and facilitates the precision design of combinational regimes,” noted Liu. “This sensitive approach has the potential to achieve individualized precision treatment for patients in the future.”
This research was published online in March 2024.

As people age, they become more prone to blood clotting diseases, when blood cells called platelets clump together when they don’t need to and can cause major issues such as strokes and cardiovascular disease. For decades, scientists have studied why older people’s blood cells behave in this way, using their insights to develop the myriad of blood-thinning drugs now on the market for treating the leading cause of death in the United States.
Now, UC Santa Cruz Professor of Biomolecular Engineering Camilla Forsberg and her research group have discovered a distinct, secondary population of platelets that appears with aging and have hyperreactive behavior and unique molecular properties, which could make them easier to target with medication. The researchers traced this population of platelets to its stem cell origins, finding what they identify as the first-ever-discovered age-specific development pathway from a stem cell to a distinct mature platelet cell.
“The question for decades and decades has been: why are aging people at such high risk for excessive blood clotting, stroke, and cardiovascular disease?” Forsberg said. “We have this discovery of a whole new pathway that progressively appears with aging — troublemakers! That was never part of the discussion.”
The research group presented their findings in a paper published in the  journal Cell. First author Donna Poscablo, Forsberg’s former Ph.D. student who is now a postdoctoral scholar at Stanford University, and her peers carried out these experiments with the resources and training environment at the Institute for the Biology of Stem Cells (IBSC) at UC Santa Cruz.
Understanding platelets
Platelet cells are one of three types of blood cells produced by the body, with red and white blood cells being the other two. Millions of these cells float around in the blood at all times, and when an injury occurs either internally or externally, they clot together to form a natural, living bandaid. Platelet dysregulation, which is known to increase with age, occurs when these cells are either hyperreactive and form clots too often, or are underperforming. In both cases the body can’t properly manage bleeding and clotting, although hyperreactivity is a much more widely-seen problem.
All blood cells begin as hematopoietic stem cells, a special class of stem cells, and then mature through a series of intermediary steps called a “differentiation pathway” that lead them to their fate as either platelets, red blood cells, or white blood cells. It’s been known for decades that these hematopoietic stem cells decline with age, but that presents a contradiction for scientists: if the hematopoietic cells are less healthy, then why are the platelets they create hyperreactive?

A ‘shortcut’ pathway
As stem cell biologists, the researchers at UC Santa Cruz approached this question by investigating the hematopoietic stem cells.
They conducted experiments that allowed them to trace the lineages of these stem cells in mouse models, and discovered that in aged mice some of their platelets did not travel along the differentiation pathway. Instead, they took what the UCSC researchers dubbed a “shortcut” pathway, skipping over the intermediary steps and immediately becoming megakaryocyte progenitors, the blood cell stage immediately before platelet production. To the researchers’ knowledge, this is the first age-specific stem cell pathway ever discovered.
“People think of [platelets and red blood cells] as one lineage that shares regulation and intermediate stages until the very end,” Forsberg said. “To see that [the secondary platelet population] were completely separated all the way from the stem cell level, only in aged mice, was really surprising.”
While the population of platelets produced from the shortcut pathway are hyperreactive, the platelets produced from the main pathway continue to behave like the platelets in a young person.
“The gradual differentiation cascade maintains a youthful property, and I feel like that is also surprising within itself,” Poscablo said.

They found that the hyperreactive secondary platelets start to be produced around midlife for the mice, with their population growing progressively with aging. As of now, the researchers have not found a trigger that begins the production of this secondary pathway. Unexpectedly, however, it does not seem to be triggered by the aging environment itself: when a young hematopoietic stem cell is transferred into an aged environment, it doesn’t seem to trigger the shortcut pathway; and when an aged hematopoietic stem cell is put into young environment, the old stem cells continue to operate as old stem cells.
“That was surprising, the age resilience of the other pathway,” Forsberg said. “One of the platelet populations is not affected at all [by aging], whereas the one we have discovered is — so the whole phenomenon is not primarily induced by the environment, but by the differentiation path.”
Choosing better treatments
Knowing that this secondary population of platelets exists will help researchers find new ways to target and regulate these problematic cells via their stem cells. Before this, researchers have not tried to target these upstream cells.
“From our expertise, we can ask the questions of how to target the hematopoietic stem cell and now the megakaryocyte progenitor, which has never really been highlighted before as a place to target,” Poscablo said.
Targeting these cells may not require the creation of new medications, but more simply inform the prescription of existing blood thinners such as Aspirin, which treat different patients to varying degrees even if they present with similar clotting-related symptoms. Using their mouse models, the researchers will identify which of the two populations of stem cells are more sensitive to Aspirin and the myriad of other platelet drugs on the market.
The UCSC researchers are also currently working on finding this secondary population of platelets in human cells with the support of a grant from the California Institute for Regenerative Medicine (CIRM). In the mouse models, they will continue to study how to manipulate and control the shortcut pathway, with funding from the National Institutes of Health (NIH) .
Collaborators on this research included UCSC Assistant Professor of Applied Mathematics Vanessa Jönsson and University of Michigan Medical School’s Reheman Adili and Michael Holinstat. Current and former IBSC scholars on this project included Atesh Worthington (now at UC San Francisco), Stephanie Smith-Berdan, Marcel Rommel, Bryce Manso, Lydia Mok, Roman Reggiardo, Taylor Cool, Raana Mogharrab, Jenna Myers, Steven Dahmen, Paloma Medina, Anna Beaudin (now at the University of Utah, Salt Lake City), and Scott Boyer.

Three out of four U.S. adults support the use of emerging technologies that estimate a future child’s likelihood of developing health conditions influenced by multiple genes — such as diabetes, heart disease, and depression — before an embryo is implanted during in vitro fertilization (IVF), according to a new public opinion survey led by researchers at Harvard Medical School.
Results of the survey, to be published May 14 in JAMA Network Open, underscore the need for public education and conversation about the positive and negative implications of these ethically fraught technologies, the researchers said.
Although the approach, known as polygenic embryo screening, is not yet available in most IVF clinics, a few companies have begun offering such estimates — or risk scores — to gauge disease risk, the researchers noted.
“Polygenic embryo screening is largely unregulated in the United States, and without proper context and focused patient education, risk scores can create false expectations,” said first author Rémy Furrer, research fellow in bioethics in the Department of Global Health and Social Medicine in the Blavatnik Institute at HMS.
“This survey rings the alarm that geneticists, behavioral scientists, bioethicists, clinicians, and genetic counselors need to work together to figure out ways to communicate the limitations to people, so they understand what polygenic risk scores do and don’t provide,” he said.
Nearly three-quarters of respondents said they support using such screening to assess the risk of a future child developing a physical or psychiatric condition, such as heart disease, diabetes, or depression — but that number dropped when people were first presented with various concerns for individuals and society.
Far fewer respondents approved the use of the technology to predict traits unrelated to disease, such as intelligence, height, and skin color.

The results suggest that educating people better about the current shortfalls and implications — including regulating the promises that companies can make — will temper optimism and help ensure that as these technologies develop, they will be implemented in scientifically sound, ethical, and equitable ways, the authors said.
How accurate are polygenic risk scores?
Up until now, patients undergoing IVF could choose which embryos to implant based on DNA tests that detect chromosomal abnormalities, such as Down syndrome, and diseases caused by mutations in a single gene, such as cystic fibrosis. Such screening, known as preimplantation genetic testing, is well-established and widely used.
By contrast, polygenic embryo screening estimates probabilities for conditions and traits influenced by many gene variants that each raise or lower risk by a small amount.
Experts disagree on how useful this technology might become in the future, but at present there are clear limitations to accuracy, Furrer said. Polygenic conditions arise from different combinations of genes, environment, and behaviors in ways that aren’t yet fully understood. The American College of Medical Genetics and Genomics has said that polygenic embryo screening is not yet suitable for clinical use.
This gap between the state of the science and the growing availability of such tests compelled Furrer and colleagues to conduct the survey. They hope the results inspire professionals to advocate for more informed dialogue and guidance around these technologies.

“The complexities and limitations of polygenic risk scores are challenging to convey.” Furrer said. “But we need to do so to ensure that people understand the high level of uncertainty that comes with estimating these risks.”
By the numbers
The survey drew from the team’s interviews with IVF patients and reproductive health specialists. Questions included lists of conditions, traits, and potential repercussions that participants were asked to weigh in on. The survey also made clear that polygenic risk scores could be used simply for information, to prepare for a future child, or to select an embryo for implantation.
The first part of the study surveyed more than 1,400 participants representing the wider U.S. population in age, gender, and race/ethnicity. It was conducted between March and July 2023.
Findings showed that: 72 percent of respondents approved of using polygenic embryo screening in general. 17 percent were ambivalent and 11 percent disapproved. 77 percent approved of selecting embryos based on risk of certain physical health conditions. 72 percent approved of selecting embryos based on risk of certain psychiatric health conditions. 36 percent approved of selecting embryos based on likelihood of certain behavioral traits. 30 percent approved of selecting embryos based on likelihood of certain physical traits. 92 percent expressed at least slight concern about polygenic embryo screening leading to false expectations about the future child. About half were “very” or “extremely” concerned about negative outcomes for individuals or society. 82 percent said they would be at least slightly interested in using polygenic embryo screening if they were already undergoing IVF. 30 percent said they would consider undergoing IVF to gain access to polygenic embryo screening.Approval was higher for using risk scores to prepare for a child than to select an embryo.
Positives and negatives
The second part of the study, conducted from March 2023 to February 2024 with about 200 respondents, placed the list of potential concerns at either the beginning or the end of the survey.
The concerns were: Parents having false expectations about the future child. Promoting eugenic thinking or practices — unethical efforts to select on a wide scale for traits considered desirable. Stigmatizing certain traits and conditions viewed as less desirable. Treating embryos like a product by selecting them based on preferred genetic chances for conditions or traits. Risk scores not being equally relevant for all ethnicities because of the Euro-centric nature of many genetic databases. Unequal access to the technology due to high cost. Low accuracy of genetic estimates for conditions or traits. Reduced diversity of human population. Possibility of nurtured genetics — parents consciously or unconsciously shaping their children’s environments based on the genetic estimates. Confusion over how to interpret and use test results. Guilt over decisions if the child develops a particular condition or trait. Discarding of embryos. Feeling pressured to use the technology.In the second survey, respondents given the list at the start reported lower overall approval (28 percentage points less) and more uncertainty (24 percentage points higher) about polygenic embryo screening than those who saw the list at the end — a finding that speaks to the importance of education and framing the public conversation.
How to find the right balance
Some of the survey results are nuanced, the authors note, and should not be taken as unqualified public support or rejection of polygenic embryo screening.
“These findings offer an initial glimpse into public opinion, predicated on a limited presentation of the technology,” said Furrer. “Future research must explore how opinions evolve.”
For instance, the team recommends further research into what it means that a majority of respondents approved of polygenic screening for selecting embryos but also expressed strong concerns about sliding into eugenics.
It will also be important to examine the role that personal and group values, such as reproductive freedom and autonomy, play in shaping public attitudes, the authors said.
The authors conclude that the work underscores the need to inform not only the public and IVF patients but also clinicians and genetic counselors, who need to be prepared to answer the rising tide of questions about the potential benefits, present limitations, and concerns surrounding polygenic embryo screening.
Authorship, funding, disclosures
Additional authors are Dorit Barlevy, Stacey Pereira, Shai Carmi, Todd Lencz, and principal investigator Gabriel Lázaro-Muñoz, assistant professor of psychiatry in the Center for Bioethics and Department of Global Health and Social Medicine at HMS.
This work was supported in part by the National Human Genome Research Institute at the National Institutes of Health (grant R01-HG011711). The funder had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, and approval of the manuscript; and decision to submit the manuscript for publication.
All authors reported receiving NIH grants during the conduct of the study. Carmi also reported receiving personal fees from MyHeritage outside the submitted work.

Using an innovative new method, a University of Saskatchewan (USask) researcher is building tiny pseudo-organs from stem cells to help diagnose and treat Alzheimer’s.
When Dr. Tyler Wenzel (PhD) first came up with the idea of building a miniature brain from stem cells, he never could have predicted how well his creations would work.
Now, Wenzel’s “mini-brain” could revolutionize the way Alzheimer’s and other brain-related diseases are diagnosed and treated.
“Never in our wildest dreams did we think that our crazy idea would work,” he said. “These could be used as a diagnostic tool, built from blood.”
Wenzel, a postdoctoral fellow in the College of Medicine’s Department of Psychiatry, developed the idea for the “mini-brain” — or more formally, a one-of-a-kind cerebral organoid model — while working under the supervision of Dr. Darrell Mousseau (PhD).
Human stem cells can be manipulated to develop into practically any other cell in the body. Using stem cells taken from human blood, Wenzel was able to create a tiny artificial organ — roughly three millimetres across and resembling visually what Wenzel described as a piece of chewed gum someone has tried to smooth out again.
These “mini-brains” are built by creating stem cells from a blood sample, and then transforming these stem cells into functioning brain cells. Using small synthetic organoids for research is not a novel concept — but the “mini-brains” developed in Wenzel’s lab are unique. As outlined in Wenzel’s recent published article in Frontiers of Cellular Neuroscience, the brains from Wenzel’s lab are comprised of four different types of brain cells while most brain organoids are comprised of only neurons.

In testing, Wenzel’s “mini-brains” more accurately reflect a fully-fledged adult human brain, so they can be used to more closely examine neurological conditions of adult patients, such as Alzheimer disease.
And for those “mini-brains” created from the stem cells of individuals who have Alzheimer’s, Wenzel determined that the artificial organ displayed the pathology of Alzheimer’s — just on a smaller scale.
“If stem cells have the capacity to become any cell in the human body, the question then came ‘could we create something that resembles an entire organ?'” Wenzel said. “While we were developing it, I had the crazy idea that if these truly are human brains, if a patient had a disease like Alzheimer’s and we grew their ‘mini-brain,’ in theory that tiny brain would have Alzheimer’s.”
Wenzel said this technology has the potential to change the way health services are provided to those with Alzheimer’s, particularly in rural and remote communities. This groundbreaking research has already received support from the Alzheimer Society of Canada.
If Wenzel and his colleagues can create a consistent way to diagnose and treat neurological conditions like Alzheimer’s using only a small blood sample — which has a relatively long shelf life and can be couriered — instead of requiring patients to travel to hospitals or specialized clinics, it could be a tremendous resource savings for the healthcare system and a burden off of patients.
“In theory, if this tool works the way we think it does, we could just get a blood sample shipped from La Loche or La Ronge to the university and diagnose you like that,” he said.

The early proof-of-concept work on the “mini-brains” has been extremely promising — which means the next step for Wenzel is expanding the testing to a larger pool of patients.
The researchers are also interested in trying to expand the scope of the “mini-brain” research. According to Wenzel, if they can confirm the “mini-brains” accurately reflect other brain diseases or neurological conditions, they could potentially be used to speed up diagnoses or test the efficacy of drugs on patients.
As an example, Wenzel pointed to the substantial wait times to see a psychiatrist in Saskatchewan. If the “mini-brains” could be used to test which antidepressant works best on a patient suffering from depression, it could dramatically reduce the time required to see a doctor and receive a prescription.
A former high school science teacher who made the move into the world of research and academia, Wenzel said it’s the “nature of research” to come up with a hypothesis and hit close to the mark in an experiment that excites him his work.
The astounding success of the early “mini-brains,” however, has been so staggering that Wenzel admitted he still struggles to wrap his own brain around it.
“I’m still in disbelief, but it’s also extremely motivating that something like this happened,” Wenzel said. “It gives me something that I think will impact society and have actual relevance and create some change … it has a strong potential to shift the landscape of medicine.”

Published7 minutes agoShareclose panelShare pageCopy linkAbout sharingImage source, Getty ImagesBy Nick TriggleHealth correspondentThe government is spending £5.5bn less on health in England than it suggested it would be at this stage, the Institute for Fiscal Studies says.Plans set out in the 2019 election campaign indicated the budget would increase by 3.3% a year above inflation during this Parliament, the IFS said.But despite extra being put in to cover the high inflation seen, spending had risen by only 2.7% a year on average.The government defended its record, saying it was making extra investment.Funding had reached record levels and was making a “real difference” in cutting waiting lists, the Department of Health and Social Care said.The health budget for this year stands at £179.6bn. Most of this is going on the NHS but it also includes money for public health, social care and training.Happy 75th NHS – but can it survive to 100?The IFS said England was not unique in facing this challenge, given the high rates of inflation globally, and had, in this Parliament, increased health spending more than many parts of Europe – including Northern Ireland and Scotland but not Wales. But the pressures on the NHS and the commitment to increase staffing made under the 15-year NHS workforce plan, backed by both the Conservatives and Labour, meant tough decisions would be needed.More than 40% of public-service spending was already on health, IFS research economist Max Warner said.And to keep increasing the budget, other areas of government spending would have to be cut.”Whichever party takes office after the next election, budgets for the next fiscal year and the choice of how much to give to the Department of Health and Social Care will effectively dominate everything else,” he said.”Neither the Conservative Party nor Labour Party have been keen to set out spending plans. “But the next government will have to confront this reality – and fast.”‘Mounting demand’Saffron Cordery, of NHS Providers, which represents NHS trusts, said the health service desperately needed extra funding.”The NHS has been through its toughest financial year ever as budgets and services are stretched to the limit in the face of mounting demand and pressure,” she said.”We can’t go on like this.”Labour shadow health secretary Wes Streeting said: “Rishi Sunak has broken every promise he’s ever made on the NHS. “It appears he has given up on turning the health service around.”More on this storyHow’s the NHS coping in your area?Published14 MarchNeed an op? The hospitals with the worst waitsPublished14 MarchHealth workers will get promised paymentsPublished25 MarchGP explains viral online post on ‘stretched’ NHSPublished26 March

Published53 minutes agoShareclose panelShare pageCopy linkAbout sharingImage source, Getty ImagesBy Tiffanie TurnbullBBC News, SydneyA year after a massive seizure triggered his brain cancer diagnosis, top melanoma doctor Richard Scolyer remains cancer-free.The Australian has undergone a world-first, experimental treatment for glioblastoma, based on his own pioneering melanoma research.His subtype of cancer is so aggressive most patients survive less than a year.But the 57-year-old announced on Tuesday his latest MRI scan had again showed no recurrence of the tumour.”I couldn’t be happier!!!!!” he wrote in an update on social media.Prof Scolyer is an internationally renowned pathologist, and was this year named Australian of the Year alongside his colleague and friend Georgina Long, in recognition of their life-changing work on melanoma.Co-directors of the Melanoma Institute Australia, over the past decade their team’s research on immunotherapy, which uses the body’s immune system to attack cancer cells, has dramatically improved outcomes for advanced melanoma patients globally. Half are now essentially cured, up from less than 10%.It’s that research that Professor Long, alongside a team of doctors, is using to treat Prof Scolyer – in the hope of finding a cure for his cancer too.Cancer doctor takes gamble to treat his brain tumourIn melanoma, Prof Long and her team discovered that immunotherapy works better when a combination of drugs is used, and when they are administered before any surgery to remove a tumour. And so, Prof Scolyer last year became the first brain cancer patient to ever have combination, pre-surgery immunotherapy.He is also the first to be administered a vaccine personalised to his tumour’s characteristics, which boosts the cancer-detecting powers of the drugs.The results so far have generated huge excitement – and optimism that the duo may be on the cusp of a discovery which could help the roughly 300,000 people diagnosed with brain cancer globally each year.Roger Stupp – the doctor after whom the current protocol for treating glioblastomas is named – earlier this year told the BBC Prof Scolyer’s prognosis was “grim”, and that it was too early to tell if the treatment is working.He added that while Mr Scolyer’s earlier results were “encouraging” he wanted to see him reach 12 months, even 18, without recurrence before getting excited.Prof Scolyer and Prof Long have previously said the odds of Prof Scolyer being cured are “miniscule”, but they hope the experimental treatment will prolong his life and translate into clinical trials for glioblastoma patients.More on this storyCancer doctor takes gamble to treat his brain tumourPublished2 February