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Researchers at the Francis Crick Institute, working with University of Oxford, University of York and Oxford Archaeology, have developed a new technique to measure the number of chromosomes in ancient genomes more precisely, using it to identify the first prehistoric person with mosaic Turner syndrome (characterised by one X chromosome instead of two [XX]), who lived about 2500 years ago.
As part of their research published today in Communications Biology, they also identified the earliest known person with Jacob’s syndrome (characterised by an extra Y chromosome — XYY) in the Early Medieval Period, three people with Klinefelter syndrome (characterised by an extra X chromosome — XXY) across a range of time periods and an infant with Down Syndrome from the Iron Age.
Most cells in the human body have 23 pairs of DNA molecules called chromosomes, and the sex chromosomes are typically XX (female) or XY (male), although there are differences in sexual development. ‘Aneuploidy’ occurs when a person’s cells have an extra or missing chromosome. If this occurs in the sex chromosomes, a few differences like delayed development or changes in height can be seen around puberty.
Ancient DNA samples can erode over time and can be contaminated by DNA from other ancient samples or from people handling them. This makes it difficult to accurately capture differences in the number of sex chromosomes.
The team at the Crick developed a computational method which aims to pick up more variation in sex chromosomes. For the sex chromosomes, it involves counting the number of copies of X and Y chromosomes, and comparing the outcome to a predicted baseline (what you would expect to see).
The team used the new method to analyse ancient DNA from a large dataset of individuals collected as part of their Thousand Ancient British Genomes project across British history, identifying six individuals with aneuploidies across five sites in Somerset, Yorkshire, Oxford and Lincoln2. The individuals lived across a range of time periods, from the Iron Age (2500 years ago) up to the Post-Medieval Period (about 250 years ago).
They identified five people who had sex chromosomes which fell outside of the XX or XY categories. All were buried according to their society’s customs although no possessions were found with them to shed more light on their lives.

The three individuals with Klinefelter syndrome lived across very different time periods, but they shared some similarities — all were slightly taller than average and showed signs of delayed development in puberty.
By investigating details on the bones, the research team could see that it was unlikely that the individual with Turner syndrome had gone through puberty and started menstruation, despite their estimated age of 18-22. Their syndrome was shown to be mosaic -some cells had one copy of chromosome X and some had two.
Kakia Anastasiadou, PhD student in the Ancient Genomics Laboratory at the Crick, and first author of the study, said: “Through precisely measuring sex chromosomes, we were able to show the first prehistoric evidence of Turner syndrome 2500 years ago, and the earliest known incidence of Jacob’s syndrome around 1200 years ago. It’s hard to see a full picture of how these individuals lived and interacted with their society, as they weren’t found with possessions or in unusual graves, but it can allow some insight into how perceptions of gender identity have evolved over time.”
Pontus Skoglund, Group Leader of the Ancient Genomics Laboratory at the Crick, said: “Our method is also able to classify DNA contamination in many cases, and can help to analyse incomplete ancient DNA, so it could be applied to archaeological remains which have been difficult to analyse.
“Combining this data with burial context and possessions can allow for a historical perspective of how sex, gender and diversity were perceived in past societies. I hope this type of approach will be applied as the common resource of ancient DNA data continues to grow.”
The team worked with archaeologists from the University of Oxford, the Wells and Mendip Museum, University of York, University of Bradford, Oxford Archaeology, York Osteoarchaeology and Network Archaeology, acknowledging support from Lincolnshire County Council, Magdalen College and Balfour Beatty for National Highways.
Rick Schulting, Professor of Scientific and Prehistoric Archaeology at the University of Oxford, said: “The results of this study open up exciting new possibilities for the study of sex in the past, moving beyond binary categories in a way that would be impossible without the advances being made in ancient DNA analysis.”

Through the Strong Heart Family Study, National Institutes of Health-supported researchers found that small declines in blood lead levelswere associated with long-term cardiovascular health improvements in American Indian adults. Participants who had the greatest reductions in blood lead levels saw their systolic blood pressure fall by about 7 mm Hg, an amount comparable to the effects of blood pressure-lowering medication.
The findings as reported from researchers at Columbia University Mailman School of Public Health and NIEHS and NHLBI are published in the Journal of the American Heart Association.
“This is a huge win for public health,” said Anne E. Nigra, PhD, assistant professor of environmental health sciences at Columbia Mailman School of Public Health, and senior author. “We saw that even small decreases in a person’s blood lead levels can have meaningful health outcomes.”
Nigra and her co- authors, including Wil Lieberman-Cribbin, MPH, also at Columbia Mailman School, credit these improvements in large part to public health and policy changes that have occurred over the last few decades.
In addition to seeing improvements in systolic blood pressure, the investigators found that reductions in blood lead levels were associated with reductions in a marker associated with hypertrophic cardiomyopathy and heart failure.
To conduct this research, investigators partnered with 285 American Indian adults through an extension of the Strong Heart Study, the largest study following cardiovascular health outcomes and risk factors among American Indian adults. Participants lived in one of four tribal communities in Arizona, Oklahoma, North Dakota, or South Dakota.
The researchers looked at blood lead levels and blood pressure readings over time. Lead was first measured in blood collected during the 1997-1999 study visit and again in blood collected during a follow-up visit between 2006-2009. During this time, participants had their blood pressure taken and participated in medical exams, including having echocardiographs to assess their heart’s structure and function. To support similar comparisons among participants, researchers controlled for multiple factors, including social variables, cardiovascular disease risks, and medical history.

At the start of the study, the average blood lead level was 2.04 µg/dL. Throughout the study, the average blood lead level fell by 0.67 µg/dL, or 33 percent. The most significant changes, categorized by participants with average starting blood lead levels of 3.21 µg/dL and who experienced reductions of about 1.78 µg/dL, or 55 percent, were linked to a 7 mm Hg reduction in systolic blood pressure.
“This is a sign that whatever is happening in these communities to reduce blood lead levels is working,” said Mona Puggal, MPH, an epidemiologist in the Division of Cardiovascular Sciences at the National Heart, Lung, and Blood Institute (NHLBI). “The reductions in blood pressure are also comparable to improvements you would see with lifestyle changes, such as getting 30 minutes of daily exercise, reducing salt intake, or losing weight.”
The reductions in blood lead levels observed in the study are similar to those seen in the general U.S. population following policies and efforts implemented within the past 50 years to reduce lead exposure through paint, gasoline, water, plumbing, and canned items.
“Recognizing that American Indian communities are disproportionately exposed to elevated levels of lead and other metals compared to the general U.S. population, more research needs to be done to determine how environmental agents exacerbate cardiovascular and other diseases, and more needs to be done to improve the environmental health of American Indians,” said Lindsey A. Martin, PhD, a health science administrator at the National Institute of Environmental Health Sciences (NIHES).
The researchers point out that it is also important to investigate these findings in other communities and to look for additional ways to reduce lead exposure, especially in other populations with elevated risks for exposure and cardiovascular disease.
Co-authors are: Zheng Li, Michael Lewin, Patricia Ruiz, Agency for Toxic Substances and Disease Registry; Jeffery M. Jarrett, Centers for Disease Control and Prevention;Shelley A. Cole, Marcia O’Leary, Texas Biomedical Research Institute; Gernot Pichler, Clinic Floridsdorf, Vienna; Daichi Shimbo, Columbia University Irving Medical Center; Richard B. Devereux, Weill Cornell Medical College; Jason G. Umans, MedStar Health Research Institute and Georgetown-Howard Universities Center for Clinical and Translational Science; and Allison Kupsco and Ana Navas-Acien, Columbia Mailman School of Public Health.
The research was funded by NIEHS and NHLBI.

The effects of aging and external factors like UV exposure on skin are well documented. As people age or spend more time in the sun, their skin tends to become drier and more wrinkled,
Recent findings have identified an exciting potential new link to signs of skin aging — the skin microbiome, the collection of microorganisms that inhabits our skin. The results come from a collaborative study carried out by researchers at the Center for Microbiome Innovation (CMI) at the University of California San Diego (UC San Diego) and L’Oréal Research and Innovation.
Their work was published in Frontiers in Aging on January 11, 2024, in an article entitled “A multi-study analysis enables identification of potential microbial features associated with skin aging signs.” To the best of the team’s knowledge, the study is the first to isolate microbes associated specifically with signs of skin aging and skin health, rather than chronological age.
Combining CMI’s sophisticated data analysis abilities with L’Oréal’s knowledge and expertise in skin health assessment, the study comprehensively examined data collected during 13 studies that L’Oréal had carried out in the past, consisting of 16S rRNA amplicon sequence data and corresponding skin clinical data for over 650 female participants, aged 18 — 70. While each of the studies included in the analysis had focused on one particular area of interest — for example, crow’s feet wrinkles or moisture loss — this multi-study analysis collated the data to search for trends related to specific microbes while accounting for other variables, such as age.
“Previous studies have shown that the types of microbes on our skin change fairly predictably with age,” said corresponding author Se Jin Song, the CMI Director of Research. “Our skin also changes physiologically with age; for example, we gain wrinkles and our skin gets drier. But there is variation in what this looks like in people — you’ve probably noticed that there are some people who have younger or older looking skin than many others their age. Using advanced statistical methods, we were able to tease apart the microbes that are associated with these types of aging signs for skin, like crow’s feet wrinkles, from those that are associated with simply age as a chronological number.”
Two notable trends emerged from the analysis. First, the team found a positive association between skin microbiome diversity and lateral cantonal lines (crow’s feet wrinkles), which are generally viewed as one of the key signs of skin aging. Second, they observed a negative correlation between microbiome diversity and transepidermal water loss, which is the amount of moisture that evaporates through the skin. In further exploring the trends, the researchers identified several potential biomarkers that warrant investigation as microorganisms of interest. It would be premature to infer causation or actionable insights, but the study’s results have provided researchers with directions on the next steps to hone in on better understanding microbial associations with skin aging.
“At L’Oréal, our commitment is to create beauty products that meet the unique needs of each individual. Our recent collaboration with the Center for Microbiome Innovation has shed light on the role of the skin microbiome in aging, particularly in how it affects wrinkles and overall skin quality,” said co-author Qian Zheng, Head of Advanced Research, North America at L’Oréal. “This research is groundbreaking in identifying new microbial biomarkers linked to visible signs of aging like crow’s feet wrinkles. It marks a significant step towards developing technologies for healthier, more youthful skin. We look forward to sharing new results as they become available, furthering the scientific community’s understanding and contributing to advancing new skincare solutions.”
Future paths of investigation the team has suggested include metabolomics work to discover chemical biomarkers related to skin aging, as well as meta-transcriptomics research into potential targets for genetic engineering. Research into other layers of the skin has also been considered, as many studies focus on the outer skin due to the ease of sample collection.

“While the study’s findings represent an advance of our knowledge of the skin microbiome, we view them as just the beginning of a new phase of research,” said co-author Rob Knight, the CMI Faculty Director and Professor of Pediatrics, Bioengineering, Computer Science & Engineering and Data Science at UC San Diego. “By confirming a link between the microbiome and skin health, we’ve laid the groundwork for further studies that discover specific microbiome biomarkers related to skin aging, and, one day, show how to modify them to generate novel and highly targeted recommendations for skin health.”
Additional co-authors include Tyler Myers, Shi Huang, and Shalisa T. Hansen, all at UC San Diego; and Amina Bouslimani, Cecile Clavaud, Anissa Azouaoui, Alban Ott, Audrey Gueniche, Charbel Bouez, Luc Aguilar, and Magali Moreau, all at L’Oréal Research and Innovation.
The study was funded through a sponsored research agreement between L’Oréal Research and Innovation and the Center for Microbiome Innovation at UC San Diego.
Disclosure: Amina Bouslimani, Cecile Clavaud, Anissa Azouaoui, Alban Ott, Audrey Gueniche, Charbel Bouez, Qian Zheng, Luc Aguilar, and Magali Moreau are all employees of L’Oréal Research and Innovation. The other authors declare no potential conflict of interest.

What if scientists had developed a universal coronavirus vaccine in the years prior to 2020 so that it was available at the start of the COVID-19 pandemic? A universal coronavirus vaccine targets parts of the virus that are common to either many or all coronaviruses, thereby offering some degree of protection against a range of strains. A new study suggests if such a vaccine were available at the start of the pandemic, it could have saved millions of lives, prevented suffering, and saved billions of dollars in direct medical and other costs until the strain-specific (i.e., SARS-CoV-2) vaccine went through the entire development, testing, and emergency use authorization process that lasted 10 months.
In the study, researchers from the Public Health Informatics, Computational and Operations Research (PHICOR) group, the CUNY Graduate School of Public Health and Health Policy (CUNY SPH), and the National School of Tropical Medicine at Baylor College of Medicine (BCM) show that having a universal vaccine at the start of the pandemic would have had substantial health and economic benefits under almost all scenarios tested. The study will be published Jan. 11 in the Lancet’s eClinicalMedicine.
In order to determine the value of investing in developing and stockpiling a universal coronavirus vaccine, the team developed a computational model that simulated the entire U.S. population, the introduction and spread of a novel coronavirus like SARS-CoV-2 in 2020 and the resulting health (e.g., infections, hospitalizations) and economic (e.g., direct medical costs, productivity losses) outcomes. The experiments simulated what would happen if a universal coronavirus vaccine was available at the start of the COVID-19 pandemic.
Vaccinating with a universal coronavirus vaccine as a standalone intervention (e.g., no face mask use or social distancing) was cost-saving even when its efficacy was as low as 10% and only 10% of the U.S. population received the vaccine. For example, when a universal coronavirus vaccine has 10% efficacy, vaccinating a quarter of the U.S. population within two months of the start of the pandemic averts an average of 14.6 million infections and saves over $27 billion in direct medical costs. Such low vaccine coverage at the start of the pandemic could occur if a vaccine were only made available to certain high-risk subpopulations (e.g., 65 years and older, those with weakened immune systems, frontline workers), similar to the approach when mRNA vaccines became available in December 2020.
“COVID-19 was the third major and serious coronavirus epidemic or pandemic following SARS in 2002 and MERS in 2012, thus, we should anticipate a fourth coronavirus outbreak within the next decade or so,” says Peter J. Hotez, MD, PhD, dean of Baylor’s National School of Tropical Medicine and co-director of the Texas Children’s Hospital Center for Vaccine Development. “A universal vaccine is cost-effective and cost-saving and a priority for advancement.”
A universal coronavirus vaccine was also shown to be highly cost-effective even if a more specific and more efficacious vaccine came to market. For example, the study shows if it takes four months or longer for a strain-specific vaccine to reach the market, using a universal vaccine was still cost cost-saving. In a scenario where a strain-specific vaccine has 90% efficacy but is unavailable for two months after the start of the pandemic, the results from the model show that vaccinating only 10% of the population with a universal vaccine that has 10% efficacy at the start of the pandemic can save over $2 billion in societal costs (e.g., direct medical costs and productivity losses from absenteeism). Given the time required to develop a strain-specific vaccine during a pandemic to match circulating strains of the virus, this highlights the importance of having a universal vaccine readily available as a stopgap.
“Our study shows the importance of giving as many people as possible in a population at least some degree of immune protection as soon as possible,” explains Bruce Y. Lee, MD, MBA, executive director of PHICOR and professor at CUNY SPH. “Having a universal vaccine developed, stockpiled, and ready to go in the event of a pandemic could be a game-changer even if a more specific vaccine could be developed three to four months later.”
Generally, results from the model found that a universal vaccine would end up saving money if the cost to get a person vaccinated (e.g., cost of the vaccine itself, distribution, administration, storage, research, and development) is as high as $10,390 from a societal perspective.
This work was supported by the National Science Foundation proposal number 2054858, the Agency for Healthcare Research and Quality (AHRQ) via grant 1R01HS028165-01, the National Institute of General Medical Sciences as part of the Models of Infectious Disease Agent Study network under grants R01GM127512 and 3R01GM127512-01A1S1, the National Center for Advancing Translational Sciences of the National Institutes of Health via award number U54TR004279, the National Institute of Allergy And Infectious Diseases of the National Institutes of Health under Award Number P01AI172725, and by the City University of New York (CUNY) in support of the Pandemic Response Institute (PRI). Statements in the manuscript do not necessarily represent the official views of, or imply endorsement by, the National Institute of Health, AHRQ, the US Department of Health and Human Services, CUNY, or the PRI.

The Organoid group at the Hubrecht Institute produced the first organoid model of the human conjunctiva. These organoids mimic the function of the actual human conjunctiva, a tissue involved in tear production. Using their new model, the researchers discovered a new cell type in this tissue: tuft cells. The tuft cells become more abundant under allergy-like conditions and are therefore likely to play a role in allergies. The organoid model can now be used to test drugs for several diseases affecting the conjunctiva. The study will be published in Cell Stem Cell on 11 January 2024.
Our eyes produce tears to protect themselves from injuries and infections. The conjunctiva, a tissue that covers the white of the eye and the inside of the eyelids, is partially responsible for the production of these tears. It participates in tear production through the release of mucus. This mucus allows the tears to stick to the ocular surface and protects it from pathogens.
Limited treatment options
Several diseases and disorders affect the conjunctiva, such as dry eye disease, cancer, allergies and infections. In severe cases, disfunction of this tissue can lead to blindness. Until now, there has not been a good model of the human conjunctiva, which limits research into its function in sickness and in health. Consequently, there are limited treatment options for diseases affecting the conjunctiva.
First model
To gain more insight into the composition and functioning of the conjunctiva, the Organoid group set out to develop the first human model of this type of tissue. They used cells from an actual human conjunctiva and grew them into 3D structures in a dish. These miniature structures are called organoids and function as real human conjunctiva. “Once we had these functioning organoids, we wanted to know how the conjunctiva is involved in the production of tears,” Marie Bannier-Hélaouët, lead researcher in the project, explains. “We discovered that the conjunctiva makes antimicrobial components and therefore contributes to tear production in more ways than by simply making mucus.”
Allergies
The researchers then altered the conditions in the dish with the miniature conjunctivae to mimic allergies. “The organoids started to produce completely different tears: there was more mucus but there were also more antimicrobial components,” says Bannier-Hélaouët. Under these conditions, they also found a new cell type in the organoids: tuft cells. Bannier-Hélaouët continues: “Similar cells have been discovered in other tissues, but not in the human conjunctiva.” The tuft cells became more abundant under the allergy-like conditions, suggesting they play a role in the eye’s reaction to allergies.

Drugs
The newly developed organoid model opens the door for research into diseases affecting the conjunctiva. “We can use our model to test drugs for allergies or dry eye disease, for example,” says Bannier-Hélaouët. In the long term, it may even be possible to make replacement conjunctivae for people with ocular burns, ocular cancers or maybe even genetic disorders. “We are now running preclinical studies in rabbits to assess whether this approach is feasible and helpful,” Bannier-Hélaouët concludes.

Published56 minutes agoShareclose panelShare pageCopy linkAbout sharingImage source, Getty ImagesBy Andrew DawkinsBBC NewsLong Covid costs the UK at least an extra £23m in GP and other primary care consultations each year, according to estimates in a new study.The University of Birmingham said extra appointments cost between £23m and £60m a year.The study examined more than 950,000 electronic healthcare records since the start of the global pandemic. People with long Covid report symptoms including persistent coughs and brain fog.The condition is defined as having symptoms three months after the initial infection, which last for two months or more.Analysis of the economic impact of long Covid has been published in BMC Primary Care – a peer-reviewed journal that considers articles on primary health care research. ‘Poorly understood’The new study’s research team was led by the university and funded by grants from two bodies, the National Institute for Health and Care Research and UK Research and Innovation.Factors found to increase primary care costs included being older, female, white, obese or someone with long-term health conditions.Co-lead author Dr Shamil Haroon, from the university, said: “We might expect that patients who are older or who have long-term health conditions will need additional primary care support, but we have also seen additional costs associated with being white and female.”He said that using data from the earliest parts of the pandemic, the team had looked at a “balanced sample size of those who have had Covid and those who hadn’t”. Dr Haroon added: “Long Covid as a condition also continues to be poorly understood and underdiagnosed.”Co-lead author Dr Louise Jackson said: “These costs represent only a part of the overall increase in healthcare resources needed to support people with Long Covid and should be considered in future pandemic planning.”Follow BBC West Midlands on Facebook, X and Instagram. Send your story ideas to: newsonline.westmidlands@bbc.co.ukMore on this storyWoman housebound for a year after catching CovidPublished2 days agoKate Garraway thanks public after Draper’s deathPublished3 days agoWhat to do if you have CovidPublished20 December 2023Related Internet LinksUniversity of BirminghamNational Institute for Health and Care ResearchUKRIThe BBC is not responsible for the content of external sites.

The National Institute on Aging may let funding lapse for a yearslong study of nearly 50,000 pet dogs, which could also offer insight into human health.In late 2019, scientists began searching for 10,000 Americans willing to enroll their pets in an ambitious new study of health and longevity in dogs. The researchers planned to track the dogs over the course of their lives, collecting detailed information about their bodies, lifestyles and home environments. Over time, the scientists hoped to identify the biological and environmental factors that kept some dogs healthy in their golden years — and uncover insights about aging that could help both dogs and humans lead longer, healthier lives.Today, the Dog Aging Project has enrolled 47,000 canines and counting, and the data are starting to stream in. The scientists say that they are just getting started.“We think of the Dog Aging Project as a forever project, so recruitment is ongoing,” said Daniel Promislow, a biogerontologist at the University of Washington and a co-director of the project. “There will always be new questions to ask. We want to always have dogs of all ages participating.”But Dr. Promislow and his colleagues are now facing the prospect that the Dog Aging Project might have its own life cut short. About 90 percent of the study’s funding comes from the National Institute on Aging, a part of the National Institutes of Health, which has provided more than $28 million since 2018. But that money will run out in June, and the institute does not seem likely to approve the researchers’ recent application for a five-year grant renewal, the scientists say.“We have been told informally that the grant is not going to be funded,” said Matt Kaeberlein, the other director of the Dog Aging Project and a former biogerontology researcher at the University of Washington. (Dr. Kaeberlein is now the chief executive of Optispan, a health technology company.)A spokeswoman for the National Institute on Aging said that the N.I.H. does not comment on the decision-making process for individual grant applications.Matt Kaeberlein, a co-founder of the Dog Aging Project, with his German shepherd, Dobby, in 2022.Grant Hindsley for The New York TimesThe N.I.A. could still choose to provide more funding for the Dog Aging Project at some point, but if the researchers don’t bring in more money in the coming months, they will have to pause or pare back the study.“It’s almost an emergency,” said Stephanie Lederman, the executive director of the nonprofit American Federation for Aging Research. “It’s one of the most important projects in the field right now.”A petition asking for continued support from the National Institutes of Health has garnered more than 10,000 signatures, said Dr. Kaeberlein, who organized the effort.Still, the researchers are not counting on the agency to come to their rescue, and they have learned how challenging it is to conduct large, long-term studies — which could take many years to pay off — when grants are usually awarded on a short-term basis.So the three founders of the Dog Aging Project — Dr. Promislow, Dr. Kaeberlein and Dr. Kate Creevy, a veterinarian at Texas A&M University — have now created the nonprofit Dog Aging Institute to raise money for research. They hope to use the organization both to keep their own study alive and to fund other scientists who are interested in exploring similar subjects.“The data are just coming fast and furious,” Dr. Promislow said. “If anything, we’ve had to slow it down because of these funding challenges. And it’s the worst possible time to be slowing things down, because now is the time when the really exciting stuff is just starting to happen.”Dante, a senior Bernese mountain dog who had been diagnosed with canine cognitive dysfunction, at Cass Park in Ithaca, N.Y., in 2022.Heather Ainsworth for The New York TimesThe Dog Aging Project was born from two observations. First, people would give almost anything to spend more good years with their dogs. Second, canine companions could be useful models for human aging. Dogs are prone to many of the same aging-related conditions people experience, including cancer and dementia, and are exposed to many of the same environmental stressors, such as air pollution and noise. But because dogs age more quickly, studies of canine aging can yield results over shorter time frames.That was the case that the founders of the Dog Aging Project made when they asked the National Institute on Aging to fund a large, long-term study of pet dogs. In 2018, the institute awarded the researchers a five-year grant, which was then extended a year.The study is expansive. Owners of all enrolled dogs are asked to complete an annual, 10-part health and life experience survey, encouraged to share the animals’ medical records and invited to participate in an array of other surveys and activities. The researchers also aim to sequence the genomes of more than 10,000 dogs; 1,000 of those animals will also provide an array of biological samples — including blood, urine, feces and hair — every year. They are also enrolling hundreds of dogs in a randomized, placebo-controlled trial of rapamycin, a drug that has proved capable of extending the lives of lab animals.The researchers estimated in their 2018 grant application that it would take at least three months to build the physical, digital and human infrastructure for the study. The process ended up taking three years. “I don’t think anybody appreciated how hard it was going to be,” Dr. Promislow said. (The pandemic, which shuttered or strained veterinary clinics, did not help, he added.)But the project is up and running. The research team, which includes more than 100 people from more than 20 institutions, has sequenced the genomes of more than 7,000 dogs and deposited 14,000 samples in the project’s biobank. The scientists have added more than 36.5 million data points to their open-access database and started to publish some early findings. They have found, for instance, that a condition called canine cognitive dysfunction, also known as doggy dementia, is more common in sedentary dogs than active ones and that dogs that are fed once a day are less likely to have a variety of health problems than those that eat more frequently. More papers are in the works.Daniel Promislow, the principal investigator of the Dog Aging Project, with his dog Frisbee, who died in 2022.Elaine Thompson/Associated PressBut when the researchers sought a five-year grant renewal last year, their application did not score well enough in the first round of peer review to advance to the next stage of the funding process. “The reviewers were asking how much we’d accomplished in five years,” Dr. Promislow said. “Given the size of the project, I think the reviewers were wondering where the major papers are.”Steven Austad, a biogerontologist at the University of Alabama at Birmingham who is not part of the research team, said he was surprised that the researchers’ grant might not be renewed. “The importance of the things they publish and the depth of detail will increase over time, but I thought they got off to a really good start,” he said. “A large study like this really deserves a chance to mature.”Dr. Austad’s miniature dachshund, Emmylou, is enrolled in the Dog Aging Project. But at 2 years old, he noted, Emmylou is “not going to teach them a lot about aging for a long time yet.”The project’s innovative approach might have worked against it, Dr. Austad added. Reviewers accustomed to evaluating short-term research on lab mice and long-term studies of humans may not have known what to make of an enormous epidemiological study of pet dogs.Whatever the reason, the refusal to commit to more funding is “wrong,” Dr. Kaeberlein said. “It’s just really, really difficult to justify this decision, if you look at the productivity and the impact of the project.”That impact extends beyond the findings themselves, he added. “This project has engaged almost 50,000 Americans in biomedical scientific research.”Over the last few years, Shelley Carpenter, of Gulfport, Miss., has provided the researchers with regular updates on and medical records for her Pembroke Welsh corgi, Murfee. (She also collected a cheek swab for genomic sequencing.) Ms. Carpenter, whose previous corgi died from a neurodegenerative disease similar to A.L.S., hoped that the project might produce new medical knowledge that could help both dogs and people.If the N.I.H. suspends funding, they will be “throwing away” years of research, said Ms. Carpenter, who signed the petition. “Why did they even start it if they’re not going to follow through?”The researchers are planning to apply for more N.I.A. grants, Dr. Promislow said, but they have realized that they will need to develop additional funding sources to secure the project’s future. Although the Dog Aging Institute is still in nascent stages, the researchers ultimately hope to raise $40 to $50 million for an endowment that could be used to fund a variety of research related to canine health and longevity, including the Dog Aging Project.The institute’s immediate priority is to raise enough money to keep the Dog Aging Project afloat. It would take about $7 million to conduct the research the team had planned to do over the next year, but $2 million would be enough to “keep the lights on,” Dr. Promislow said. The institute is still awaiting its official tax exempt status but is already seeking donations. “We haven’t yet identified a dog-loving billionaire interested in supporting aging research,” Dr. Promislow said. “But we’re certainly going to try.”Joshua Bright for The New York Times

Published2 hours agoShareclose panelShare pageCopy linkAbout sharingBy Áine McGlincheyBBC News NIA young Londonderry man has started documenting his experience of living with a stoma on social media in a bid to bust myths and tackle stigma.Stephen Blakely became unwell in the summer of 2022, bleeding when going to the toilet and suffering severe pain.That year he underwent an ileostomy and now uses a stoma bag to collect waste products. Now he hopes his TikTok videos will help those with similar symptoms to overcome any fear of getting help.”If you are going through pain or bleeding go and get checked out, it literally takes five minutes and could save your life,” the 24-year-old told BBC Radio Foyle’s North West Today programme.”There’s nothing a doctor or nurse hasn’t seen before. Yours isn’t the first backside they have seen.”Stephen has ulcerative colitis, a condition where the colon and rectum become inflamed.”I was going to the toilet 10 to 12 times a day at that time. I was in excruciating pain constantly,” he said.The ileostomy means he now lives with a stoma – an opening on the abdomen which connects to the digestive or urinary system and allows waste to be diverted out of the body and into a bag.”It doesn’t have to be a bag for life, it can be a bag for living,” he said.’I didn’t know anyone else with a bag’Stephen, who had worked as a carer, said he was active and healthy before he became sick.But when he became unwell and underwent surgery things changed.When he left hospital, he was visited regularly by specialist nurses.But as those visits became less frequent he started to feel more isolated and alone.Image source, Getty Images”You are left dealing with it, struggling on your own, you have no one else that can understand what you are going through – I didn’t know anyone with a bag when I got it,” he said.He said he went into “a hole” for two years while he tried to come to terms with how life had changed.Things are better now. He still struggles at times, but he’s socialising again, going out more often, and he’s started posting videos on TikTok.”For me, whenever I got a stoma bag I was terrified of getting it. You always hear the myths and the rumours, there are plenty of them,” he said.A stoma bag ‘will give you your life back’Rachel Jury on living with two stoma bagsOne caused him more anxiety than any other. “You hear all the rumours, people thinking you are going to smell, that’s a terrifying thing to go through.”That was my most terrifying fear. I lay awake about that for days at a time, that I would go outside and people would think: ‘There’s an odour or smell coming off him.'”That’s never happened me once with a stoma bag – it’s very important that I get that across”.He hopes his social media content will help others come to terms with life with a stoma and encourage anyone who is unwell to get help.”Since I made the TikTok account I have had people reaching out and contacting me. There’s more people than you would know with a stoma bag,” Stephen said.More on this storyA stoma bag ‘will give you your life back’Published19 April 2022Police officer given ‘armour’ for stoma bagPublished4 December 2020″If it wasn’t for my bag, I would not be here today”Published21 June 2020

Published3 hours agoShareclose panelShare pageCopy linkAbout sharingImage source, PA MediaBy Jenny ReesBBC Wales health correspondent Wales is one of the worst countries for people surviving three of the six deadliest forms of cancer, according to new data.The Less Survivable Cancers Taskforce has compared 33 similarly wealthy nations in a survival league table.Wales ranks 32nd for stomach cancer, 31st for pancreatic and lung, 21st for liver and oesophageal and 12th for brain.The Welsh government said it is committed to improving cancer outcomes. The taskforce – a partnership of cancer charities including Tenovus Cancer Care – suggests Wales and the rest of the UK rank below most other countries for five-year survival rates.Woman with IBS misdiagnosis left with incurable cancerMum’s uterine cancer mistaken for periodsSouth Korea, Belgium, the United States, Australia and China were the countries that scored the highest.The six deadliest cancers are lung, liver, brain, oesophageal, pancreatic and stomach.More than 90,000 people are diagnosed with one of these six in the UK every year, and they account for 67,000 deaths – about half all cancer deaths.Image source, Tenovus Cancer Care The chief executive of Tenovus Cancer Care, Judi Rhys, said people with these cancers had a “shockingly low life expectancy”. Ms Rhys, who is also chairwoman of the Less Survivable Cancers Taskforce Wales subgroup, said: “The actions we’ve repeatedly called for – targeted screening and monitoring those most at risk – would have a huge impact on survival.”These latest statistics should be a strong reminder to Welsh government of the importance of prioritising and accelerating cancer survival initiatives.”She said “exciting developments going on” included a breath test that helps detect pancreatic cancer, which she wants more research done on.”Similarly some of the tests that can be used for things like Barrett’s oesophagus – which is the precursor often to throat cancer – we have some very simple, well tolerated tools that can be used which would be able to detect those cancers earlier.”We’re not rolling those out across Wales at the moment and that is a real concern to us.”About 15,400 people survive five years in the UK but, if rates were the same as the best performing countries, that could be as many as 23,775 people.The taskforce’s report suggests delayed diagnosis and slow access to treatment could be to blame.Many patients were only diagnosed after an emergency admission to hospital or an urgent referral after their symptoms become severe.The Wales Cancer Network published a three-year cancer improvement plan last year, including plans for rapid diagnostic centres.The most recent NHS performance figures showed 56% of patients were treated within the target 62-days of cancer being suspected.The Welsh government said cancer is one of the six planning priorities for the NHS and it is committed to improving cancer outcomes. It said: “The NHS Executive has introduced a national intervention that specifically targets improvement in service provision for gynaecological, urological, and lower gastrointestinal cancers – the cancers with the most challenging cancer performance.”More on this storyAs a black man I wasn’t included in cancer statsPublished21 June 2023Cancer crisis warning over long and anxious waitsPublished9 March 2023

Published13 minutes agoShareclose panelShare pageCopy linkAbout sharingImage source, Getty ImagesBy Fergus WalshMedical editorAnalysing the entire genetic code of cancer patients can help deliver treatments that work better for the individual, experts have found.In the biggest study of its kind, with 13,000 cancer patients in England, combining clinical data and DNA evidence meant care could be tailored.Based on the results, some were given different drugs or avoided ones likely to cause them side effects. Most brain tumours had genetics that affected treatment decisions.In the study, published in Nature Medicine, more than nine out of every 10 brain tumours and most bowel and lung cancers exhibited genetic changes that could guide decisions about surgery or specific treatments.Whole-genome sequencing (WGS) analyses someone’s entire genetic code – all 3.2 billion letters that make up their DNA. Cancer patients have:the baseline “healthy” genome they inherited from both parents – here, the DNA is extracted via a blood testthe corrupted genome found in their cancer, which is made up of both healthy and mutated DNA and taken via a biopsyThe first can show genetic variations that may make them more susceptible to cancer – the BRCA1 mutation can increase the risk of breast and ovarian cancer, for example.The second can show which genes are helping to spread their cancer and whether they may be more likely to suffer adverse side effects from some drugs.In more than 10% of sarcomas – solid cancers in the bone and muscle – the researchers found genetic changes that revealed different sub-types of the cancer, which, in turn, helped doctors choose the correct treatment.They also found more than 10% of ovarian cancers were probably inherited, offering insights into clinical care and potential testing of family members. The study, led by Genomics England, NHS England, Queen Mary University of London, Guy’s and St Thomas’ NHS Foundation Trust and the University of Westminster and completed in 2018, analysed data covering over 30 types of solid tumours.DNA mapping project to transform societyHundreds with rare diseases get genetic diagnosis It was “an important milestone in genomic medicine”, Dr Nirupa Murugaesu said.”We are starting to realise the promise of precision oncology that was envisioned 10 years ago, when the 100,000 Genomes Project was launched,” she said.”We are showing how cancer genomics can be incorporated into mainstream cancer care across a national health system – and the benefits that can bring patients. “By collecting long-term clinical data alongside genomic data, the study has created a first-of-its-kind resource for clinicians to better predict outcomes and tailor treatments, which will allow them to inform, prepare, and manage the expectations of patients more effectively.”‘Tremendous opportunities’The results had been fed back to clinical teams, Dr Murugaesu said.And at least one trust in the East Midlands had taken action in about one in every four of the cases, mostly putting patients into clinical trials or ensuring they avoided medicines for which they had an increased risk of side effects. Genomics England scientific director for cancer Dr Alona Sosinsky said: “The 100,000 Genomes Project paved the way for delivering whole-genome sequencing in cancer. “This technology opens tremendous opportunities for precision oncology.” More on this storyNewborns to get rapid genetic disease diagnosisPublished13 December 2022DNA mapping project ‘to transform society’Published5 December 2018Hundreds with rare diseases get genetic diagnosisPublished11 November 2021Related Internet Links100,000 Genomes Project – Genomics EnglandThe BBC is not responsible for the content of external sites.