Saturday, May 17, 2025

 

One in ten asthma cases can be avoided with a better urban environment



Karolinska Institutet
Erik Melén 

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Erik Melén

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Credit: Andreas Andersson





The combination of air pollution, dense urban development and limited green spaces increases the risk of asthma in both children and adults. This is shown by a new study conducted as part of a major EU collaboration led by researchers from Karolinska Institutet.

The study covers nearly 350,000 people of different ages, from 14  cohorts in seven European countries. Information on home addresses of each individual made it possible to link data on various environmental risks in the urban environment to individual people. The environmental exposures included were air pollution, outdoor temperatures, and the level of urban density. The assessment was partly based on satellite images showing grey, green, or blue areas, i.e., where there were buildings, green spaces, or water.

“Previous studies have typically calculated the risk of one environmental factor at a time. We have combined several environmental factors and described how they together affect the risk of developing asthma. This provides a better picture of environmental risks, as life in a city usually involves exposure to several environmental risk factors at the same time,” says first author Zhebin Yu, researcher and assistant professor at the Institute of Environmental Medicine at Karolinska Institutet.

During the study period, nearly 7,500 of the study participants developed asthma as children or adults. The researchers found that 11.6 per cent of asthma cases could be explained by the combination of environmental factors. Or, to put it another way, in a favourable environment, approximately one in ten people with asthma would not have developed the disease. The combination of air pollution, lack of green spaces, and dense urban development was most relevant for the development of asthma.

“This is useful for politicians and others involved in urban planning. The method makes it possible to identify risk areas in existing urban areas, but it can also be used when planning future urban environments,” says Erik Melén, professor at the Department of Clinical Research and Education, Södersjukhuset, and last author of the study.

The next step for the researchers is to examine blood samples from some of the study participants. The aim is to identify their metabolome, i.e., a composite picture of the body's metabolism and breakdown products. The purpose is to understand how external environmental factors affect the body, which could provide a better understanding of how asthma develops.

The study was conducted in collaboration between various research groups within the framework of the EU project EXPANSE. The researchers involved in the project are also investigating how the risk of other diseases such as stroke, heart attack, COPD and diabetes, is affected by individual exposomes, i.e., the total exposure to many environmental factors.

The study was funded by the EU's Horizon 2020 programme (EXPANSE, No 874627), the Swedish Research Council, Forte (the Swedish Research Council for Health, Working Life and Welfare), the Swedish Heart-Lung Foundation and Region Stockholm, among others.

Read more about the EXPANSE project here.

Publication: ‘External exposome and incident asthma across the life course in 14 European cohorts: a prospective analysis within the EXPANSE project’, Zhebin Yu, Sara Kress, Natalia Blay, Petr Gregor, Hanna-Maria Kukk, Miriam Leskien, Renata Majewska, Max J. Oosterwegel, Daniel Szabó, Margreet ten Have, Jana Klánová, Ondřej Mikeš, Anna Bergström, Alonso Bussalleu, Rafael de Cid, Andrea Dalecka, Payam Dadvand, Saskia van Dorsselaer, Krista Fischer, Kees de Hoogh, Gerard H. Koppelman, Jaanika Kronberg, Estonian Biobank Research Team, Jeroen Lakerveld, Petter Ljungman, Simon Kebede Merid, Pawel Macek, Marta Manczuk, Anne-Sophie Merritt, Agnieszka Pac, Priit Palta, Göran Pershagen, Annette Peters, Hynek Pikhart, Apolline Saucy, Tamara Schikowski, Youchen Shen, Marie Standl, Cathryn Tonne, Roel Vermeulen, Jelle Vlaanderen, Judith M Vonk, Kathrin Wolf, Carl Henrik Ek, Olena Gruzieva, Ulrike Gehring, Erik Melén, Lancet Regional Health-Europe, online May 15, 2025, doi: 10.1016/j.lanepe.2025.101314

 

Air pollution may increase epilepsy risk, new study suggests




London Health Sciences Centre Research Institute





LONDON, ON - A new study reveals air pollution may contribute to the development of epilepsy, a brain condition that causes seizures. Published in Epilepsia, researchers at London Health Sciences Centre Research Institute (LHSCRI) and Western University’s Schulich School of Medicine & Dentistry found an association between long-term exposure to air pollution with new cases of epilepsy in adults in Ontario.

The study utilized data from the Canadian Urban Environmental Health Research Consortium which was linked to Ontario’s health administrative databases and analyzed at ICES. It began with the population of Ontario residents with a health card as of January 1, 2010. After focusing on adults without other major health conditions like brain cancer, researchers found 24,761 new epilepsy cases over six years. The study found that higher exposure to fine particulate matter, a component of air pollution, increased the likelihood of developing epilepsy by 5.5 per cent, while ozone, another component of air pollution, increased it by 9.6 per cent.

The study is the first time databases were used to make a direct connection between new cases of epilepsy in adults in Ontario and long-term exposure to air pollution. “Our hope is that this research can help inform environmental policy and ensure there are adequate resources and health care for epilepsy in areas that have significant air pollution,” says Dr. Jorge Burneo, Scientist at LHSCRI, Neurologist at London Health Science Centre (LHSC) and Professor at Schulich School of Medicine & Dentistry.

According to the World Health Organization (WHO), 99 per cent of the world’s population breathes air that exceeds WHO air quality limits. Scientific studies have linked air pollution to a wide variety of health issues and now there is additional evidence on its association with new onset epilepsy.

Epilepsy is one of the most common neurological disorders worldwide, affecting about six in every 1,000 people at any given time. People with epilepsy are three times more likely to die earlier in life and some do not respond to anti-seizure medications.

“This research is important because it has the potential to drive changes that could ultimately reduce the number of new epilepsy cases,” says Tresah Antaya, PhD, Postdoctoral Associate at Western University in the Department of Clinical Neurological Sciences. “We know seizures can significantly affect quality of life — limiting a person’s ability to work in certain industries, drive, or live independently. Our hope is that this work will contribute to a future where fewer people are affected by epilepsy.”

As a next step in this work, the research team plans to explore the effects that forest fires may have on health, including epilepsy.

"Our environment plays a big role in our health," adds Dr. Burneo. "Our research aims to better understand these connections with a goal of improving both planetary and human health."

 

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MEDIA CONTACTS:  
Celine Zadorsky, Senior Media Relations Consultant, London Health Sciences Centre, (226) 927-2309, media@lhsc.on.ca    

Cynthia Fazio, Media Relations Officer, Schulich Medicine & Dentistry, (226) 376-4924 (mobile), cynthia.fazio@uwo.ca

About London Health Sciences Centre Research Institute:
At London Health Sciences Centre Research Institute (LHSCRI), our teams pioneer discoveries that transform the health of adult and paediatric patients around the world. As the research institute of London Health Sciences Centre (LHSC), we conduct research where patient care is delivered, working alongside patients, families, health-care providers and academic partners like Western University. We are leaders in advancing the understanding, diagnosis, treatment and management of diseases and health conditions through a diverse research program that ranges from laboratory-based science to clinical trials. Our research has a global impact as we build on LHSC’s 150-year legacy of health innovation and drive forward medical breakthroughs that make a difference in the lives of patients and their families. Find us online at www.lhscri.ca and on social media @LHSCRI. 

ABOUT WESTERN
Western University delivers an academic experience second to none. Since 1878, The Western Experience has combined academic excellence with life-long opportunities for intellectual, social and cultural growth in order to better serve our communities. Our research excellence expands knowledge and drives discovery with real-world application. Western attracts individuals with a broad worldview, seeking to study, influence and lead in the international community. For more information, visit https://uwo.ca/

ABOUT ICES

ICES houses a vast, secure array of large, population-based databases that capture health-care system use over time and across Ontario, Canada. The ICES data repository includes health administrative datasets, demographic datasets, population-based surveys, disease registries, validated chronic condition cohorts, electronic medical records, and a growing number of other non-health administrative data. These record-level, coded data are linkable, encompassing over 30 years of health service interactions for over 21 million people eligible for publicly-funded health care in Ontario. 

 

NIH to award $8 million for new USC Superfund center to research and address ‘forever chemicals’



Experts in population health, engineering, and medicine will study and address harms related to the manmade pollutants at the new Southern California Superfund Research and Training Program for PFAS Assessment, Remediation and Prevention (ShARP) Center.



Keck School of Medicine of USC

 





A team of scientists from Keck School of Medicine of USC and USC Viterbi School of Engineering has been awarded an $8 million, five-year grant from one of the National Institutes of Health to launch a Superfund Research Program Center where they will study environmental contamination from “forever chemicals,” or PFAS, which are used to make multiple household items from cookware to furniture.

With the grant from the National Institute of Environmental Health Sciences, the USC scientists are establishing the Southern California Superfund Research and Training Program for PFAS Assessment, Remediation and Prevention, or ShARP Center. There, they will investigate how these chemicals impact liver health, and how to detect and remove them from public water sources.

Known as “forever chemicals” because they take so long to break down, PFAS are estimated to be present in the blood of more than 99% of U.S. adults. Researchers from the Keck School of Medicine have found that these chemicals can affect nearly every organ in the body, including the kidneys and liver, and are linked to a range of rare cancers. Still, much work remains to better understand how PFAS affect health.

“We still have an incomplete understanding of the health impacts of PFAS exposure, including their impact on human liver disease,” said Vaia Lida Chatzi, MD, PhD, a professor of population and public health sciences at the Keck School of Medicine and director of the ShARP Center. “That’s one of the many unknowns our center will work to answer.”

The new center builds on a strong foundation of PFAS research and remediation efforts by Chatzi and her team. In addition to studying how the pollutants affect health, the researchers have documented PFAS contamination of drinking water, as well as food and beverage products, and partnered with local communities to share information on how to stay safe.

The team’s recent research efforts were supported by a 2023 USC President’s Sustainability Initiative Award, which paved the way for the launch of the ShARP Center, Chatzi said. The pilot grant allowed researchers to gather and publish data on PFAS in Southern California and to show that a cross-disciplinary collaboration could lead to solutions.

“At USC, we are united in our mission to build a healthier, more sustainable and prosperous future for all,” said USC President Carol Folt. “The ShARP Center is an important step in tackling the growing problem of chemical contamination. This interdisciplinary effort will not only advance research on forever chemicals, but also reflects our decades-long commitment to finding real-world solutions to environmental health challenges.”

Working together on PFAS

Superfund Research Program Centers unite leaders from various fields to protect public health from hazardous substances, including those found at Superfund sites deemed as a threat to human health by the U.S. Environmental Protection Agency. With the research grant and the establishment of the ShARP Center, USC is among nearly two dozen universities that lead Superfund research in the country, according to information maintained by the National Institute of Environmental Health Sciences.

Scientists at the ShARP Center will focus on understanding how PFAS affect liver health, building on early evidence from animal models. To explore how PFAS exposure affects human liver cells, Chatzi and her team will employ advanced techniques such as 3D spheroid modeling. These lab-grown clusters of cells help scientists more accurately simulate what happens in the human body, compared to traditional 2D cell cultures.

They will also conduct a population study that examines the link between PFAS exposure and liver disease in youth, a group that faces an outsized and growing risk of the condition. Currently, there are no effective intervention strategies to tackle the liver disease epidemic affecting children and adolescents across the country. The center researchers will investigate what factors and mechanisms may be driving the spike in liver disease and identify critical approaches to address this gap.

One major problem is PFAS contamination of public drinking water, which affects an estimated 200 million people nationwide. Researchers from the USC Viterbi School of Engineering will explore ways to remove PFAS from polluted water, including through the use of special microbes, chemicals or heating methods that can break down the chemicals.

“This collaboration includes experts in biological processes, water reuse, chemical transport and more. That diverse knowledge will be critical for solving challenges related to PFAS and public and environmental health,” said Adam Smith, PhD, an associate professor of civil and environmental engineering at the Viterbi School of Engineering and one of the ShARP Center’s leaders.

From research to action

While research is ongoing, Chatzi and her team are already taking steps to protect public health. They have launched several efforts that aim to educate high-risk Southern California communities about the harms of PFAS exposure.

“We’ve been building partnerships with community leaders to collaborate on exposure assessment of PFAS and health studies across L.A.,” said Max Aung, PhD, MPH, an assistant professor of population and public health sciences at the Keck School of Medicine, who will oversee engagement efforts at the ShARP Center. “Our engagement core will continue working with community leaders to share research findings and gain insights that can help us build effective solutions and interventions.”

The ShARP Center will also share findings with industry partners, policymakers, and the broader scientific community, with the goal of using its remediation work as a model for similar initiatives nationwide.

About the ShARP Center

In addition to Chatzi, Smith and Aung, the center’s other leaders from Keck School of Medicine of USC are Rob McConnell, David Conti, Jesse Goodrich and Jane Steinberg at the Department of Population and Public Health Sciences; and Ana Maretti-Garcia and Lucy Golden from the Department of Medicine. The center’s leading researchers from USC Viterbi include Dan McCurry and Amy Childress. The University of California, Irvine researchers are Scott Bartell and Veronica Vieira.

This work is supported by the National Institute of Environmental Health Sciences [P42ES36506].


Drinking water, select foods linked to PFAS in California adults



While concentrations of older “forever” chemicals appear to have decreased in many foods over the last two decades, a new study found that drinking water, along with seafood, eggs, and brown rice, still contribute to PFAS exposure in adults



Boston University School of Public Health






While concentrations of older forever” chemicals appear to have decreased in many foods over the last two decades, a new study found that drinking water, along with seafood, eggs, and brown rice, still contribute to PFAS exposure in adults. More attention is needed to newer, replacement PFAS.

Food has long been considered a major source of per- and polyfluoroalkyl substances (PFAS), a large class of long-lasting chemicals used in industry, consumer products, and found in the environment that are hazardous to human health. A new study led by Boston University School of Public Health researchers (BUSPH) reveals that PFAS exposure through food appears to have declined among adults over the last two decades—but drinking water remains an important source of these chemicals.

Published in the journal Environmental Science & Technology, the study examined associations between diet, drinking water, and “legacy” PFAS—chemicals that were phased out of production in the US in the 2000s—with blood samples from California residents. PFAS exposure was associated with consumption of seafood, eggs, and brown rice, but fewer other foods than suggested by earlier studies. PFAS levels were elevated among people who lived in areas where these chemicals were detectable in their drinking water supply, but lower than levels found in highly contaminated communities.

The findings published the same day the Environmental Protection Agency (EPA) announced that it will roll back first-ever limits on certain types of PFAS in drinking water, set last year. The EPA also said it will uphold drinking water standards for two of the most harmful forever chemicals—PFOA and PFOS—but extended the deadline for water utilities’ compliance with these rules, from 2029 to 2031.

The study provides the first analysis of the effects of diet and drinking water simultaneously on PFAS concentrations in blood, and it fills a critical gap in research on this topic. Most US information on PFAS in food relies on earlier European studies that cannot be fully applied to the US population or lifestyle due to differences in time of sampling, diet, food production, and industries. To understand and mitigate the harmful effects of PFAS on individuals and the environment, the US needs current data on the possible contributing sources of exposure.

While we observed fewer dietary associations compared to previous studies, diet and water may still be an important source of exposure in the general population,” says study lead and corresponding author Dr. Emily Pennoyer, a graduate of BUSPH’s environmental health PhD program, and a student at the time of the study. “These findings emphasize the need to continue ongoing efforts to regulate PFAS in drinking water.”

Known as “forever chemicals” because they are difficult to break down, some PFAS are linked to a number of diseases and other health conditions, including multiple cancers, liver damage, thyroid disease, decreased vaccine response, and developmental and reproductive complications.

For the study, Dr. Pennoyer and colleagues at BUSPH, the California Department of Public Health (CDPH), and California Department of Toxic Substances Control estimated associations among legacy serum PFAS concentrations, self-reported food consumption, and PFAS concentrations in public drinking water supplies. The 700 adult participants were selected from the California Regional Exposure Study, conducted from 2018-2020, which measures and compares environmental chemicals in people across the state to better understand how to reduce chemical exposure and improve public health. 

The participants provided survey responses detailing demographic information and the frequency in which they consume red meat, poultry, seafood, dairy, eggs, potatoes, brown rice, takeout, and packaged foods that are heated at home. The researchers observed associations between legacy serum PFAS and consumption of seafood, eggs and brown rice, but overall, PFAS exposure through food appeared to be lower than earlier studies in other populations—a surprising result to the team. This decline could be due, in part, to the Food and Drug Administration’s decision to phase out legacy PFAS from manufacturing, and restrict certain PFAS in paper food contact materials. 

“It is encouraging that we see fewer associations with food in this study, but concern about PFAS in some food groups remain,” says study coauthor Dr. Nerissa Wu, biomonitoring California program lead at CDPH. “We will continue to work to understand how to lower PFAS levels in the California food supply.”

While PFAS concentrations in the participants’ drinking water was on average substantially lower than previous measurements in areas that have reported heavily contaminated water supplies, the team still observed significantly higher PFAS levels in participants living in water service areas with detectable PFAS, compared to those who lived in areas without detectable levels.

“The connections to drinking water are concerning and support California’s efforts to evaluate and address PFAS contamination in drinking water supplies,” says study coauthor Dr. Kathleen Attfield, head of the Biomonitoring California, Exposure Surveillance and Epidemiology Unit at CDPH. 

In addition to gaining a better understanding of PFAS in the food chain, “more research is needed on indoor exposures to air, dust, and cosmetics, as well as analyses of newer, non-legacy PFAS,” says study senior author Dr. Thomas Webster, professor of environmental health at BUSPH.

“Our findings further support the importance of upholding the federal drinking water standards promulgated by the U.S. Environmental Protection Agency,” says study coauthor Dr. Wendy Heiger-Bernays, emeritus clinical professor of environmental health at BUSPH. ”Efforts to ban or limit the use of PFAS, including emerging PFAS, are necessary to reduce their presence in the environment, including in food and water.” 

Consumers can make informed choices by purchasing products labeled “fluoro-free” when possible, she adds.

** 

About Boston University School of Public Health 

Founded in 1976, Boston University School of Public Health is one of the top ten ranked schools of public health in the world. It offers master's- and doctoral-level education in public health. The faculty in six departments conduct policy-changing public health research around the world, with the mission of improving the health of populations—especially the disadvantaged, underserved, and vulnerable—locally and globally. 

Survey: Does someone with alcohol use disorder deserve a new liver?




Most comprehensive study of its kind sheds light on perceptions of deservingness based on the reason for the transplant and recipients’ race/ethnicity



Texas A&M University






Becoming an organ donor has never been easier. Registration is available online when renewing a driver’s license or, for iPhone users, through an app.

Still, the people who desperately need transplants far outnumber the available organs. Every eight minutes, someone in the United States is added to the waiting list and every day, 17 people in the United States die while waiting for a transplant.

“Given the staggering need, we were interested in whether Americans consider some recipients more deserving than others based on the reason behind the need for a transplant and whether a recipient’s race or ethnicity plays a role,” said Simon F. Haeder, PhD, a health policy analyst with the Texas A&M University School of Public Health who helped conduct the study, published in Social Science Quarterly.

Haeder said research on the topic is scarce and is limited in terms of organs and behaviors considered. This study is comprehensive and is the first to assess organ failure facilitated by workplace injuries (such as exposure to coal dust that contributes to black lung disease) and mental health factors (such as alcohol use disorder).

For their study, Haeder and a colleague from Utah Valley University surveyed 4,177 adult American citizens in the United States from March 18 to April 18, 2022. Participants provided opinions about four scenarios that featured individuals with distinct life circumstances and names that were racially/ethnically identifiable.

The individual in the first scenario had “a genetic condition that destroyed his kidneys” and necessitated a kidney transplant. The second had “worked in a coal mine all his life” and needed a lung transplant because of black lung disease. The third was “very ill with COVID-19,” had not been vaccinated against COVID-19 and needed a lung transplant. And the fourth had alcohol use disorder and needed a liver transplant.

For insight into the influence of race and ethnicity on transplant eligibility, the researchers used identifiable names that had been pre-tested in another study: Ronny Nielsen (white), DeShawn Washington (Black), Luis Hernandez (Hispanic) and Yang Chen (Asian).

After viewing all four scenarios, respondents used a five-point Likert scale ranging from “definitely yes” to “definitely not” to indicate whether the characters should be eligible for a transplant. They also answered survey questions that assessed their political ideologies (liberal or conservative) and racial resentment.

A comparison of predicted means to assess differences revealed that the public does consider the life circumstances of prospective organ recipients but not their race or ethnicity.

“Respondents were generally most supportive of the individual dealing with black lung disease, followed by the individual with kidney disease and the COVID-19 patient and finally, the individual dealing with alcohol use disorder,” Haeder said.

“The public generally establishes a clear ranking of potential transplant candidates based on the circumstances that led to their transplant needs,” Haeder said. “The most prominent findings were the substantial support for individuals dealing with black lung disease, which often outscored all other individuals, and the support for individuals with genetic kidney disease over both individuals dealing with COVID-19 and alcohol use disorder.”

Haeder said liberals and respondents low in racial resentment generally did not show meaningful differences between the individual dealing with alcohol use disorder and the unvaccinated COVID-19 patient, while conservatives and those with high racial resentments did.

“One finding that stood out related to the individuals dealing with alcohol use disorder,” Haeder said. “While this condition is accepted as a disease, the individuals with this disorder consistently were found least deserving of a transplant in our study, indicating a lingering stigma.”

The lack of findings related to racial and ethnic differences were also noteworthy, he said, noting that in cases where differences were identified, they appeared to slightly favor racial and ethnic minorities.

“The larger question here is whether and how public attitudes should be included in transplant allocations,” Haeder said. “On the one hand, better aligning allocation decisions with public opinion might lead more people to become donors, but on the other hand, the scarcity of organs means that rules for their use are critically important.”

Haeder said the study’s findings might lead to more opportunities for increasing the number of organs for transplant or to developing innovative approaches to the organ shortage.

By Ann Kellett, Texas A&M University School of Public Health

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‘Rogue’ immune cells explain why a gluten-free diet fails in some coeliac patients



Scientists have identified mutated immune cell clones that could point to improved treatment for refractory coeliac disease.


Garvan Institute of Medical Research

Professor Chris Goodnow 

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Professor Chris Goodnow 

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Credit: Garvan Institute




Researchers at the Garvan Institute of Medical Research and UNSW Sydney have discovered why some people with coeliac disease continue to suffer debilitating symptoms despite strictly avoiding gluten.

The study, published in Science Translational Medicine, used cutting-edge single-cell sequencing techniques to reveal that certain immune cells in the gut of these patients carry genetic mutations. The team’s findings suggest these abnormal immune cells are driving ongoing intestinal inflammation that causes symptoms like diarrhoea, pain and malnutrition – pointing to a new way to diagnose and potentially treat the most severe form of coeliac disease.

“For decades, doctors have struggled to understand why a small proportion of coeliac patients do not improve on a strict gluten-free diet,” says Professor Chris Goodnow, senior author of the study and Head of the Immunogenomics Lab at Garvan. “Our research suggests that, in some cases, the disease may be fuelled by immune cells that have acquired genetic mutations – something we’ve never been able to see before.”


Rogue immune cells emerge as hidden culprits

Coeliac disease is a chronic autoimmune condition where the body mistakenly attacks the small intestine in response to gluten, a protein found in wheat, barley and rye. While most people with the condition experience relief when they remove gluten from their diet, around 1% develop refractory coeliac disease, which is where symptoms persist despite strict dietary control.

Refractory coeliac disease is classified into two types. Type 2 is caused by abnormal immune cells that can rapidly develop into an aggressive lymphoma, but the cause of type 1 has remained a mystery – until now.

“This is the first time we’ve been able to pinpoint a molecular signature for type 1 refractory coeliac disease,” says Dr Manu Singh, first author of the study and Senior Research Officer at Garvan. “We discovered that some patients with refractory disease have an accumulation of immune cells with genetic mutations, which may develop during periods of chronic inflammation, such as earlier gluten exposure. What’s interesting is that these mutations share similarities with those we see in certain lymphomas – appearing to give the cells a growth and survival advantage. This is a potential explanation for why they persist even after a patient eliminates gluten from their diet.”

The researchers found that these mutated – or ‘rogue’ – immune cells were present in seven out of 10 patients with type 1 refractory coeliac disease. This discovery could lead to new ways to identify at-risk patients earlier and more targeted treatments.

 

Could existing drugs provide a solution?

Currently, the only treatment for refractory coeliac disease is broad immunosuppression, which dampens the immune system but does not specifically target the mutated cells. The researchers say their findings open the door to more precise therapies.

“If we can confirm that these mutated immune cells are driving the disease, then we may be able to target them with existing drugs,” says Professor Fabio Luciani, co-senior author of the study, Visiting Scientist at Garvan and Professor in Systems Immunology at UNSW Sydney. “For example, we found that many of these aberrant cells have mutations in the JAK-STAT pathway, which is already targeted by approved drugs known as JAK inhibitors. With more investigation, this could lead to a personalised medicine approach where we treat patients based on their specific immune cell mutations.”

“Understanding these mutated immune cells gives us a new way to think about why some patients don't recover on a gluten-free diet, and could help us identify which patients might benefit from different treatment approaches,” adds Associate Professor Jason Tye-Din, a coeliac disease specialist at WEHI who collaborated on the study.

“The findings highlight the power of advanced genetic technologies in understanding autoimmune diseases. Until recently, these abnormal immune cells were undetectable using traditional methods, but new single-cell sequencing techniques have made it possible to analyse thousands of individual cells from intestinal biopsies,” says Dr Singh.

“This research is a great example of how new genomic technologies can uncover hidden disease mechanisms. By applying these state-of-the-art tools to coeliac disease, we are beginning to solve long-standing medical puzzles and move towards more precise treatments,” says Professor Goodnow.

--ENDS--

This research was supported by John Brown Cook Foundation, Croall Foundation, The Bill and Patricia Ritchie Foundation, Miss Lyn Unsworth, a Ferris Fellowship from the Ferris Family Foundation, NHMRC Investigator Grants and the UNSW Cellular Genomics Futures Institute. Chris Goodnow is The Bill and Patricia Ritchie Foundation Chair at the Garvan Institute and a Professor of the Cellular Genomics Futures Institute and School of Biomedical Sciences, UNSW Sydney.