Category: 8. Health

An international team of researchers has made a key discovery: many children and young adults in Sub-Saharan Africa diagnosed with type 1 diabetes (T1D) may have a different form of the disease – one not caused by the immune system, unlike classic T1D. This discovery could change how diabetes is diagnosed, treated and managed across the region, paving the way for more accurate care and better outcomes.

The research was published today in Lancet Diabetes and Endocrinology.

This is the first study across several Sub-Saharan African countries to use the same lab tests and genetic tools to learn more about type 1 diabetes. We’ve done similar research in the U.S. with different groups, but what’s exciting here is being able to compare results between Africa and the U.S.”

Dana Dabelea, MD, PhD, paper’s co-author, Distinguished Professor and Associate Dean of Research, Colorado School of Public Health, University of Colorado Anschutz Medical Campus

The researchers enrolled 894 participants with youth-onset diabetes from three African countries: Cameroon, Uganda and South Africa. They compared findings from this population with similar studies done in the U.S. in the same age range.

“It’s a really unique and important opportunity to explore the heterogeneity of T1D across countries and racial groups living in vastly different environments,” adds Dabelea, who is also the director of the Lifecourse Epidemiology of Adiposity and Diabetes (LEAD) Center at CU Anschutz.

The researchers found that many young people in Sub-Saharan Africa diagnosed with T1D often don’t have the usual markers in their blood (called islet autoantibodies) typically seen in people with T1D in other parts of the world. Specifically, 65% of participants with T1D in this region did not have islet autoantibodies.

Islet autoantibodies help distinguish T1D from other forms of diabetes, like type 2 or monogenic diabetes, which have different causes and treatments.

“This suggests that many young people in this region have a different form of T1D altogether and is not autoimmune in origin,” said Dabelea.

When the researchers compared this data to studies in the U.S., they found a smaller but significant proportion (15%) of Black participants diagnosed with T1D had a similar form of diabetes found in Sub-Saharan Africa – characterized by negative autoantibodies and a low T1D genetic risk score.

However, white Americans with T1D showed the typical autoimmune pattern, even if they didn’t have detectable autoantibodies, their genetics still pointed to autoimmune diabetes.

“The identification of this T1D diabetes subtype in Sub-Saharan African populations and among individuals of African ancestry in the U.S. suggests a potential ancestral or genetic link,” Dabelea notes. “These findings highlight the need to consider alternative etiologies in this group and a deeper understanding of the underlying mechanisms may provide important insights for future prevention and treatment strategies.”

Around 10 million people globally live with the life-threatening virus HTLV-1. Yet it remains a poorly understood disease that currently has no preventative treatments and no cure.

But a landmark study co-led by Australian researchers could change this, after finding existing HIV drugs can suppress transmission of the HTLV-1 virus in mice.

The study, published in Cell, could lead to the first treatments to prevent the spread of this virus that is endemic among many First Nations communities around the world, including in Central Australia.

The research by WEHI and the Peter Doherty Institute for Infection and Immunity (Doherty Institute) also identifies a new drug target that could lead to the elimination of HTLV-1 positive cells from those with an established infection, and prevent disease progression.

At a glance

• New research co-led by WEHI and the Doherty Institute could lead to the first preventative treatments for HTLV-1, one of the most complex and neglected viruses in the world.
• The study found two specific HIV antivirals already on the market can suppress transmission of HTLV-1 in humanised mice and prevent disease, identifying the first prophylactic treatment against HTLV-1.
• Secondly, when the HIV antivirals were used in combination with a compound that induces cell death, infected cells were killed – flagging a potential future curative strategy for the disease.
• The unprecedented findings could enable these drugs to enter clinical trials preventing establishment of pathogenic levels of HTLV-1.

Human T-cell leukaemia virus type 1 (HTLV-1) is a virus that infects the same cell type as HIV – T cells, a type of blood immune cell that helps the body fight off infections.

A small proportion of people infected with HTLV-1 after a long duration of infection develop serious diseases, such as adult T-cell leukemia and spinal cord inflammation.

Co-lead author and WEHI laboratory head Dr Marcel Doerflinger said the promising results of the new study could help find a desperately needed treatment and prevention strategy for one of the most neglected viruses in the world.

“Our study marks the first time any research group has been able to suppress this virus in a living organism,” Dr Doerflinger said.

“As HTLV-1 symptoms can take decades to appear, by the time a person knows they have the infection the immune damage is already in full swing.

“Suppressing the virus at transmission would allow us to stop it before it has the chance to cause irreversible damage to immune function, leading to disease and a premature death.”

In a research effort spanning 10 years, the collaborative team isolated the virus and developed a world-first humanised mouse model for HTLV-1 that enabled them to study how the virus behaves in a living organism with a human-like immune system.

The mice were transplanted with human immune cells that are susceptible to HTLV-1 infections, including with Australia’s genetically novel HTLV-1 strain. International and Australian strains equally caused leukaemia and inflammatory lung disease in these human immune system mice.

The mice were then treated with tenofovir and dolutegravir – two antiviral therapies currently approved to silence HIV and prevent AIDS. The team discovered both drugs could also powerfully suppress HTLV-1.

“What’s most exciting is that these antivirals are already in use for millions of HIV patients, meaning there’s a direct path for the clinical translation of our findings,” Dr Doerflinger said.

“We won’t have to start from scratch because we already know these drugs are safe and effective. And now we’ve shown that their use can very likely be extended to HTLV-1.”

In another remarkable finding, the team discovered that human cells containing HTLV-1 could be selectively killed when mice were treated with HIV drugs in combination with another therapy inhibiting a protein (MCL-1) known to help rogue cells stay alive.

The team is now leveraging precision RNA therapies to develop new ways to target MCL-1 and establish combination treatments that can be clinically tested, which they believe could offer a promising curative strategy for HTLV-1.

Crucial insight

The development of the humanised mouse models central to this study at WEHI was spearheaded by first author Dr James Cooney and Professor Marc Pellegrini, study lead author, WEHI Honourary Fellow and Executive Director at Centenary Institute.

Prof Pellegrini said the mouse models were not only critical in identifying potential therapeutic targets, but also allowed researchers to understand how different strains of the HTLV-1 virus can alter disease symptoms and outcomes. This is particularly important for the unique strain that is present in Australia, HTLV-1c.

“It’s long been hypothesised that differences in viral subtype may influence disease outcomes, but a lack of research into HTLV-1 has made it difficult for us to find the evidence needed to support this claim – until now.

“Our study provides critical insights that enable us to better understand the consequences of the distinct molecular make-up of the virus affecting our First Nations communities. This will further help us to investigate ways to create the tools needed to control the spread of this virus subtype.”

The human HTLV-1 samples needed to develop the mouse models were obtained through the front-line clinical work of Associate Professor Lloyd Einsiedel, a Clinician Scientist at the Doherty Institute and Infectious Diseases Physician, who has provided a clinical service to Central Australia for more than a decade and has dedicated his career to putting HTLV-1 on the map.

Advocacy for a neglected disease

Research by the University of Melbourne’s Professor Damian Purcell, Head of Molecular Virology at the Doherty Institute and co-lead author of the study, isolated the virus from First Nations donors and identified significant genetic differences between the HTLV-1c strains from Central Australia compared to the HTLV-1a strains found internationally.

The new findings show that both HTLV-1 strains cause disease in mice, with HTLV-1c showing more aggressive features. The identified drug therapies were found to be equally effective against both strains.

Prof Purcell and Associate Prof Lloyd Einsiedel worked with the National Aboriginal Community Controlled Health Organisation (NACCHO) HTLV-1 committee and the Australian Department of Health over many years to advocate for guidance on HTLV-1 from the World Health Organization (WHO) that led to them formally classify the virus as a Threatening Pathogen to Humans in 2021.

This resulted in the development of formal WHO policies to reduce transmission internationally and the development of clinical management guidelines for HTLV-1c in Central Australia under NACCHO leadership.

“Despite Australia’s high burden of HTLV-1, the virus and its associated diseases are still not notifiable in most states and true infection rates in the nation remain unknown,” Prof Purcell said.

“People at risk from HTLV-1 deserve biomedical tools like those that provide game-changing therapeutic and prevention options for other blood-borne persistent viral infections, such as HIV.

“There is a real opportunity to prevent the transmission of HTLV-1 and end the diseases caused by these infections. Our research findings are a major leap forward in this.”

The research team is currently in talks with the companies behind the HIV antivirals used in this study, to see if HTLV-1 patients can be included in their ongoing clinical trials. If successful, this would pave the way for these drugs to become the first approved pre-exposure prophylaxis against HTLV-1 acquisition.

These findings are supported by The Australian Centre for HIV and Hepatitis Virology Research, The Phyllis Connor Memorial Trust, Drakensberg Trust and the National Health and Medical Research Council (NHMRC).

A University of Oklahoma researcher is the first to discover that the sequence of the genetic defect in the neuromuscular disease Friedreich’s ataxia isn’t always as uniform as previously thought, a breakthrough finding that could spark changes in how the condition is diagnosed and studied.

To further the research, Sanjay Bidichandani, MBBS, Ph.D., a professor of pediatrics at the University of Oklahoma College of Medicine, has received a $2.8 million grant from the U.S. Department of Defense.

Friedreich’s ataxia appears in the teenage years with balance and walking problems and can lead to heart issues, vision and hearing loss, and other symptoms. The disorder is inherited, caused by a defect in a gene called FXN, and it is recessive, meaning a person needs a copy of the gene defect from both parents to be affected.

Since the FXN gene was discovered in 1996, a finding in which Bidichandani played a role, the sequence of the genetic defect was thought to be standard. The disease is indicated by an expansion of the letters GAA in the gene sequence. A person without Friedreich’s ataxia typically has fewer than 30 of the triplet letters GAA in a row. However, people with the condition have 100 to 1,500 GAAs, an expansion of the naturally occurring sequence.

The test to discover this expansion is straightforward, but Bidichandani’s team wondered if there was more to the story than a greater length of GAA letters. When they used a new technology called long-read sequencing, they discovered something that no one had found before: “spelling errors” in the long string of GAA letters in some people with the condition.

Instead of GAA expanded 1,500 times, we found different combinations of G’s and A’s that the original test could not detect. It is a whole new level of genetic variability that was not being taken into account in the diagnosis and prognosis of Friedreich’s ataxia.”

Sanjay Bidichandani, MBBS, Ph.D., professor of pediatrics, University of Oklahoma College of Medicine

The discovery is significant for several reasons. Bidichandani’s preliminary research using long-read sequencing shows that people with GAA letter irregularities seem to have a milder version of the disease in which they experience slower progression. His data thus far also shows that about 30% of people with the condition have this irregular spelling.

“But they have been told they have the classic type of Friedreich’s ataxia,” he said. “Our first goal with this new grant is to determine the real diversity of genotypes in people with Friedreich’s ataxia, and then to determine whether their condition is actually less severe.”

The research has major implications for clinical trials, Bidichandani said. People in ongoing trials have been enrolled based on the assumption that there is one presentation of Friedreich’s ataxia with a straightforward expansion of GAA letters. If trial participants appear to be responding to a drug, they actually could have a milder version of the condition instead, Bidichandani said.

Understanding the different genotypes is also essential for people who want to undergo testing before deciding to have children. “Because the standard test performed by many clinical diagnostic labs does not detect the spelling errors, people may receive a false negative result for carrier testing,” he said. “We have already discovered several families who’ve been told they’re not carriers, but when we do our specialized test, it turns out that they are carriers.”

Bidichandani’s grant was one of only 19 Impact Awards funded nationally through the fiscal year 2024 Peer Reviewed Medical Research Program of the Congressionally Directed Medical Research Program within the Department of Defense. It is called an Impact Award because grant recipients are expected to make discoveries that have an immediate effect on patient care.

Friedreich’s ataxia is rare; about 5,000 people in the United States have the condition, and there is currently only one drug approved by the Food and Drug Administration for treatment. To expand his research on patients with Friedreich’s ataxia, Bidichandani is collaborating with David R. Lynch, M.D., Ph.D., of Children’s Hospital of Philadelphia, who shares a portion of the grant.

They have also been supported by the Friedreich’s Ataxia Research Alliance, the largest patient advocacy group in the world for the condition. The organization provided initial funding that allowed Bidichandani and Lynch to gather the data needed to apply for the Department of Defense grant.

“This is an exciting time for our research program,” Bidichandani said. “We believe our findings will have a beneficial impact on people with Friedreich’s ataxia and their families.”

In a surprising and hopeful turn of events, a 40-year-old father is living his best life in his second innings, after he was diagnosed with terminal glioblastoma in 2023. In fact, three years later, he is not only healthy and thriving, but his brain cancer has completely ‘vanished’!How?Read on to know more.

What happened?

In October 2022, 40-year-old Ben Trotman was diagnosed with terminal glioblastoma, the most common and deadliest form of brain cancer that typically carries a grim prognosis with a median survival of just 12–18 months. Yet, over two years after receiving a single dose of ipilimumab before standard care, Trotman reportedly remains cancer-free and healthy as ever.Under the care of consultant oncologist Dr. Paul Mulholland at UCLH (University College London Hospital), Trotman became part of an NHS-funded trial that administers ipilimumab, a checkpoint inhibitor designed to boost the immune system, before traditional surgery, radiotherapy, and chemotherapy.Two years later, his scans show no signs of recurrence, an unprecedented outcome in glioblastoma treatment.

The medical marvel

The new clinical trial for the most deadly type of brain cancer, glioblastoma, which helped Ben with another shot at life, is looking for patients to join after an incredible success story. Organized by the NHS, this study aims to enroll 16 people over 18 months and is dedicated to Baroness Margaret McDonagh, who lost her battle with the disease. Patients diagnosed with glioblastoma will receive an immunotherapy drug called ipilimumab before starting standard treatments, making the most of their immune systems when they are at their strongest.The trial is being led by experts at University College London Hospital’s National Hospital for Neurology and Neurosurgery. It follows a previous study with the same drug, which had to close because not enough patients joined.The trial honors the late Baroness Margaret McDonagh’s memory and, like Trotman, participants receive ipilimumab to prime their immune defenses, with hopes of replicating his reassuring response.

Ipilimumab: The key behind the breakthrough

Ipilimumab is a monoclonal antibody that blocks CTLA-4, an immune checkpoint. In cancers like melanoma, it enhances T-cell activity, enabling the body to attack tumors. When used before standard glioblastoma therapy, it primes the immune system to better target cancer cells. In Trotman’s case, it appears to have either eradicated or dramatically controlled his tumor, an outcome never before reported in this context.This “window-of-opportunity” pre-treatment approach is groundbreaking. By delivering immunotherapy before surgery, it maximizes immune activation and potentially aids post-operative cancer control, a novel strategy in glioblastoma care.

What is glioblastoma?

Glioblastoma, previously known as glioblastoma multiforme or GBM, is the most common and aggressive type of primary brain cancer in adults.Glioblastoma originates from astrocytes, a type of glial cell that supports nerve cells in the brain and spinal cord. Glioblastoma is classified as a Grade IV tumor, meaning it’s highly aggressive, grows rapidly, and infiltrates surrounding brain tissue. The exact cause of most glioblastomas is unknown. However, it is understood that the disease develops when brain cells undergo DNA mutations that cause them to grow and multiply uncontrollably.The prognosis for glioblastoma is generally poor, with a median survival of about 12-18 months after diagnosis. The five-year survival rate is around 5%, meaning about 5% of patients are still alive five years after their diagnosis. Glioblastoma almost always recurs despite maximal treatment.Hence, Trotman’s cancer-free scans more than two years post-treatment represent a hopeful breakthrough. It suggests that bolstering immune readiness before conventional treatment might overcome glioblastoma’s defenses.

The success story

The success story comes from Ben Trotman, who was diagnosed in October 2022 at the age of 40. Now, at 43, two years and eight months after his treatment, his scans are clear, and there are no traces of the tumor.Dr. Paul Mulholland, the consultant medical oncologist who is leading this new trial and treated Ben, as reported by The Independent, shared, “It is very unusual to have a clear scan with glioblastoma, especially when he didn’t have the follow-up surgery that had been planned to remove all of the tumor that was initially visible on scans. We hope that the immunotherapy and follow-up treatment Ben has had will hold his tumor at bay – and it has so far, which we are delighted to see.”Ben’s life has changed significantly since his diagnosis; he got married to Emily just two months after receiving the immunotherapy treatment, and in April, they welcomed their daughter, Mabel. Emily expressed the emotional toll of Ben’s diagnosis, saying, “Getting this diagnosis was the most traumatic experience. We were grappling with the fact that Ben had gone from being apparently perfectly healthy to having months to live. Had we not met Dr. Mulholland, that would have been it for us. We felt we had a lucky break in an otherwise devastating situation.”After the immunotherapy, Ben went on to have the standard treatments of radiotherapy and chemotherapy. He continues to have quarterly scans, which remain clear. Ben reflected on their journey, stating, “We obviously don’t know what the future holds, but having had the immunotherapy treatment and getting these encouraging scan results has given Emily and me a bit of hope. We are focused on rebuilding the life we thought we had lost and enjoying being parents.”Dame Siobhain McDonagh MP led a successful fundraising campaign that gathered over £1 million to support this new trial. Her sister, Baroness McDonagh, sadly passed away from glioblastoma in 2023. Dame Siobhain shared, “My beloved sister Margaret was appalled to discover that there had been no advances in brain cancer treatment for decades when she was diagnosed with glioblastoma. Changing this was Margaret’s final campaign and one that I have continued in her memory. I am so grateful to the many people who knew and respected Margaret, who have come together and helped to raise funds and campaign for this new trial that we are calling Margaret’s Trial.”Dr. Mulholland is also thankful for Margaret and Siobhain’s dedication, stating, “When I met Margaret, she said to me, ‘What can I do to support you to cure this disease?’. I am incredibly grateful to her and to Siobhain, whose campaigning and fundraising in her sister’s memory have led to this new clinical trial opening for patients with this most aggressive form of brain cancer that has such a poor prognosis, with most patients surviving just nine months after diagnosis. The crucial element of this trial is that patients will have their immune system boosted by the drug before they have any other treatment, when they are fit and well enough to tolerate the immunotherapy. We’re taking everything we have learned from previous trials into this new study, and we are already planning follow-on trials. My aim is to find a cure for glioblastoma.”

What’s ahead?

Led by Dr. Mulholland, the trial is expanding enrollment, aiming to confirm both safety and effectiveness. Currently, the National Brain Appeal is funding two positions to support Dr. Mulholland’s vital research. The treatment will take place at the NIHR UCLH’s Clinical Research Facility and the National Hospital for Neurology and Neurosurgery. Patients who are interested in participating in the new Win-Glio trial should discuss it with their consultant.

The experimental vaccine, which builds on a successful glioblastoma trial, uses mRNA technology similar to COVID-19 vaccines. However, instead of targeting viruses, it trains immune cells to recognize and attack tumors regardless of cancer type.

“This paper describes a very unexpected and exciting observation: that even a vaccine not specific to any particular tumor or virus – so long as it is an mRNA vaccine – could lead to tumor-specific effects,” said Dr. Elias Sayour, principal investigator at the UF RNA Engineering Laboratory. “This finding is a proof of concept that these vaccines potentially could be commercialized as universal cancer vaccines to sensitize the immune system against a patient’s individual tumor.”

The vaccine boosts PD-L1 expression in cancer cells, making tumors more visible to immune cells and enhancing the effects of immunotherapy. In pre-clinical trials on mice with melanoma and other cancers, the vaccine cleared drug-resistant tumors without additional treatment.

“This study suggests a third emerging paradigm,” said co-author Dr. Duane Mitchell. “What we found is by using a vaccine designed not to target cancer specifically but rather to stimulate a strong immunologic response, we could elicit a very strong anticancer reaction.”

While still in the pre-clinical phase, the research paves the way for a potential “off-the-shelf” cancer vaccine, offering a universal approach to cancer immunotherapy. The findings were published in Nature Biomedical Engineering.

Earlier, it was reported that eight children have been born in the United Kingdom using a pioneering fertility technique that combines the DNA of three individuals, aimed at preventing the transmission of incurable mitochondrial diseases.

All probiotics are not created equal, according to new research from North Carolina State University. In a mouse model, researchers found that different probiotic strains can either accelerate or delay the gut microbiome’s recovery after antibiotic treatment. The work adds to the body of evidence suggesting that probiotic efficacy is specific and situational, and that more research is needed to understand the strain-specific impacts of different probiotics.

Probiotic supplements are often consumed after antibiotic treatment to prevent antibiotic-associated diarrheal disease, most commonly caused by Clostridioides difficile (C. diff). However, the actual impact of individual probiotic strains on the gut’s microbiota, or bacterial environment, is poorly understood.

“Colonization resistance or the ability to prevent colonization of pathogens is a function of a healthy microbiota,” says Casey Theriot, professor of infectious disease at NC State and co-corresponding author of the research. “This study looked at how long it took resistance against C. diff colonization to return after antibiotics and the impact of two of the most commonly used commercial strains of Lactobacillus probiotic on that return.”

The research team looked at three groups of mice that had been treated with cefoperazone, a commonly used broad-spectrum cephalosporin antibiotic. The first group received no probiotic treatment. The second group received L. acidophilus, and the third received L. gasseri. Each group was challenged with C. diff weekly for four weeks and the microbiota of each group was examined to measure bacterial load and C. diff resistance.

Mice that received no probiotic showed decreased bacterial load and resistance to C. diff infection by four weeks after stopping antibiotics. However, the L. acidophilus mice had an increased bacterial load in weeks two and three, while the L. gasseri group had no detectible C.diff after two weeks.

Additionally, the researchers found that L. gasseri did not colonize or remain in the gut. Instead, it was involved in the production of bacteriocins, or antimicrobial peptides, and it encouraged the growth of Muribaculaceae, another potentially beneficial bacteria.

“We have always known that it’s important to understand the strain-specific impact of probiotic strains,” says Rodolphe Barrangou, Todd R. Klaenhammer Distinguished Professor of Food, Bioprocessing and Nutrition Sciences at NC State and co-corresponding author of the research. “Depending on the condition and composition of the individual’s microbiome, the disease, and the probiotic strain, you will have different effects and outcomes.

“What’s interesting is that this study indicates it’s more complicated than people think, because probiotics can have transient or indirect effects on the microbiome. L. gasseri doesn’t prevent infection, it transiently promotes recovery of microbiome through Muribaculaceae, which subsequently could provide resistance. This opens new avenues to inform what we should do next.”

“This is the only study out there that is functionally testing resistance in the microbiome,” Theriot adds. “Although this work is in a mouse model, it shows the need for better mechanistic understanding of how probiotics affect the microbiome, because not only can they have effects weeks after they’ve left the body, in certain situations they have the potential to prolong or complicate recovery.”

The research appears in mBio and was supported by NIH training grants through the University of North Carolina Center for Gastrointestinal Biology and Disease (CGIBD) and the Molecular Biotechnology Training Program (MBTP) at NC State. The UNC CGIBD is an NIH supported center. Other NC State contributors to the work are first author Matthew Foley, Arthur McMillan, Sarah O’Flaherty, Rajani Thanissery, Molly Vanhoy, and Mary Fuller.

Many people with cancer experience dramatic loss of muscle and fat tissue. In many cases, even the heart muscle is affected, which further weakens the body. This wasting syndrome, known as cachexia, affects around half of all cancer patients. It is a major cause of therapy resistance, complications, and increased mortality. Researchers from Helmholtz Munich, in collaboration with Heidelberg University Hospital, the Technical University of Munich, and the German Center for Diabetes Research, have now identified a previously overlooked driver of cachexia: the liver. It responds systemically to tumors in other organs – such as the intestine or pancreas – and contributes to tissue wasting by releasing specific signaling molecules.

The silenced clock gene

In cachexia, liver metabolism is fundamentally reprogrammed. One gene, which normally regulates the liver’s activity throughout the day, ceases to function properly. Using a mouse model, the researchers discovered that this “internal clock” was almost completely shut down. “After reactivating the gene, known as REV-ERBα, specifically in the liver of affected mice, the loss of body mass was significantly reduced,” says Dr. Doris Kaltenecker, co-first author of the study alongside Dr. Søren Fisker Schmidt, and researcher at the Institute for Diabetes and Cancer at Helmholtz Munich.

Liver-derived signaling molecules drive cachexia

The team showed that REV-ERBα regulates several genes involved in the production of liver-derived signaling molecules. When this clock gene is inactive, the liver releases increased levels of factors that promote disease progression. Three of these so-called hepatokines (LBP, ITIH3, and IGFBP1) are central to the newly discovered mechanism. In cell culture experiments, they triggered catabolic, that is tissue-degrading, processes in muscle and fat cells, which are precisely the processes responsible for the physical wasting seen in cachexia. In addition, the levels of these proteins were markedly elevated in the blood of cachectic patients with various types of cancer. In preclinical models, targeted inhibition of these factors successfully mitigated their harmful effects.

Perspectives for diagnosis and therapy

“For the first time, we were able to show that the liver is not merely a passive responder to cachexia, but actively contributes to the progression of the disease,” says Dr. Mauricio Berriel Diaz, who led the study at Helmholtz Munich. “Our findings open up new possibilities to better diagnose the syndrome and explore therapeutic interventions.” The study also provides a comprehensive data resource on the role of the liver in cachexia – ranging from molecular networks to cell type-specific changes and functional outcomes in preclinical models. This dataset is now available to the scientific community and can be used well beyond the model system studied.

In the long term, the identified factors could serve as biomarkers for cachexia risk or as targets for new therapies. “Given that there is currently no approved treatment for cachexia, we urgently need new approaches,” emphasizes Prof. Stephan Herzig, Director of the Helmholtz Diabetes Center and the Institute for Diabetes and Cancer at Helmholtz Munich, and Professor at the Technical University of Munich. “These results clearly demonstrate the importance of systemic organ interactions in the progression of cancer.” (DZD).

Wastewater surveillance became a popular choice among public health officials looking to track rapid virus mutations and spread patterns during the COVID-19 pandemic. But what if there was a way to detect emerging viruses even faster – or to even sniff out new variants possibly before patients even realize they’re ill?

A new UNLV-led study is moving that dream one step closer to reality by pairing wastewater sample surveillance with artificial intelligence. The results appear in the latest issue of the journal Nature Communications.

Lead author and UNLV neuroscience graduate student Xiaowei Zhuang developed an AI-driven algorithm that scans wastewater to detect budding influenza, RSV, mpox, measles, gonorrhea, Candida auris, or other pathogen variants – often before they’re identified by clinical tests. 

Scientists say being able to map virus emergence, mutation, and transmission faster with AI than with existing wastewater surveillance methods could significantly enhance public health officials’ ability to roll out rapid, targeted interventions. 

“Imagine identifying the next outbreak even before the first patient enters a clinic. This research shows how we can make this possible,” said study co-author Edwin Oh, a professor with the Nevada Institute of Personalized Medicine at UNLV. “Through the use of AI we can determine how a pathogen is evolving without even testing a single human being.”

While the study details how the team’s AI method can separate overlapping signals in complex datasets, its real promise lies in on-the-ground impact. “The tool could especially be useful in improving disease surveillance in rural communities, empowering health workers in low-resource settings,” said study co-author and Desert Research Institute research professor Duane Moser. 

The research team tested its theory by analyzing nearly 3,700 wastewater samples collected from Southern Nevada wastewater treatment facilities between 2021 and 2023. They discovered that the AI-driven system could accurately identify unique signatures for different virus variants with as few as two to five samples, significantly earlier than existing methods. 

Previous wastewater detection methods required prior knowledge of a variant’s genetic makeup and relied heavily on clinical data from patients who had already been tested. Though those methods worked well, they were a more reactive approach – typically identifying new virus strains after they had already begun widely circulating in a community. 

“Wastewater surveillance has enabled more timely and proactive public health responses through monitoring disease emergence and spread at a population level in real time,” says Zhuang. “This new method enhances early outbreak detection to allow for identification of novel threats without prior knowledge or patient testing data, proactively detecting patterns from multiple wastewater samples and making this tool even more effective for public health surveillance moving forward.”

Since 2021, four Las Vegas institutions – UNLV, the Southern Nevada Water Authority (SNWA), the Southern Nevada Health District, and the Desert Research Institute – have collaborated on a public wastewater surveillance dashboard to track emerging cases of COVID-19 and other viruses. 

The Nature Communications AI study is one of more than 30 studies these organizations, along with the Cleveland Clinic Lou Ruvo Center for Brain Health, have collaborated on. And the researchers say it is among the first studies to employ an AI approach in enhancing wastewater intelligence.

“Wastewater surveillance has proven to be an effective tool for filling critical data gaps and understanding public health conditions within a community,” said study co-author Daniel Gerrity, principal research microbiologist at SNWA. “The ongoing wastewater surveillance effort is a great example of how collaboration between SNWA, UNLV, and other partners can lead to positive impacts for the local community and beyond.”

July 22, 2025

SINGAPORE – A new locally developed digital application powered by artificial intelligence (AI) takes less than five minutes to identify seniors with early memory problems or pre-dementia, with an accuracy rate of up to 93 per cent.

Patients can use Pensieve-AI to draw pictures on a tablet with a stylus and the app’s AI will check different areas of thinking and memory before analysing the drawings for signs of pre-dementia.

It will soon replace current screening tools doctors use to assess for dementia, which include using pen and paper to draw a clock and recalling three random unrelated words, such as banana, sunrise and chair.

A nationwide study of the app completed in September 2024 found that it achieved an accuracy of 93 per cent in detecting pre-dementia, a result that is as good as the current gold standard of detailed cognitive testing.

The results were published in the scientific journal Nature Communications at the end of March.

Pensieve-AI was developed by the Singapore General Hospital (SGH) and the Government Technology Agency of Singapore (GovTech), and is slated to be rolled out in 2026.

Dr Liew Tau Ming, a senior consultant in the department of psychiatry at SGH, said the Pensieve-AI test, which comprises four drawing tasks including a clock, can be done by seniors themselves with little or no help in 3½ minutes.

The current test can take up to 30 minutes to complete, depending on the patient’s literacy skills, and needs trained staff to administer.

“It was in June 2020 when we started to discuss and develop the app. A year later, in June 2021, we started our study on whether the AI would be able to detect pre-dementia. We recruited nearly 1,800 seniors aged 65 and above for the study,” Dr Liew said.

Pensieve-AI may become available at community sites, in the form of tablets. It cannot be downloaded to smartphones, to prevent people from learning to draw the images by rote.

“Mild cognitive impairment, or more commonly referred to as pre-dementia, is often missed because it can be mistaken as part of normal ageing. But pre-dementia can show up as more frequent memory lapses, trouble finding the right words, or increasing difficulty managing day-to-day tasks,” he said.

This is worrying for the authorities, as the number of people living with dementia will rise as Singapore’s population ages.

By 2030, about 80,000 of the almost one million seniors in Singapore are projected to have dementia.

Madam Tan Yew Tee (centre) with daughter and caregiver Nancy Hoon (right) and Dr Liew Tau Ming. Madam Tan was one of the participants in the nationwide study. PHOTO: THE STRAITS TIMES

One participant of the Pensieve-AI study was Madam Tan Yew Tee, 84, who was found to have early dementia after she was tested using the app.

“My mother has a penchant for bringing home brochures and it was a blessing that she brought the one on Pensieve-AI back from the (active ageing centre) which she was attending,” said her daughter and caregiver Nancy Hoon, 59.

“That was how we found out her condition. Otherwise, I would have thought she was getting older and her forgetfulness and memory lapse were all part of ageing. She kept asking me what day it was every five minutes. It was exasperating. (It was) only after I found out that she has early dementia that I became more understanding towards her,” she said.

Today, Madam Tan continues to go to an active ageing centre and her daughter also schedules activities for her to engage in with other seniors, such as arts and craft.

“The socialisation seems to have helped stave (off) the condition. She seems happier and is no longer the woman who sat and daydreamed in front of the television every day,” Ms Hoon said.