Tuesday, May 12, 2026

 

Exeter leads rare disease global genetic testing project, improving access and saving young lives




University of Exeter




An international partnership designed to improve equality in access to genomic medicine for a rare disease has now provided potentially life-saving genetic testing for over 1,100 families across the world.  

Congenital Hyperinsulinism affects the pancreas, causing blood sugar (glucose) levels to drop dangerously low. Genetic testing ensures children are on the best treatment for them.  Importantly, testing can also predict whether a baby has a form of disease in which the entire pancreas produces too much insulin, or a smaller region in the pancreas oversecretes insulin, known as focal disease. Focal disease can be cured by a surgery to remove these cells. Getting this surgery early reduces risk of a brain injury caused by low blood glucose levels. Around 40 per cent of children with congenital hyperinsulinism have neurologic damage resulting from a brain injury, which can be life-threatening in the most severe cases.  

Now, a new correspondence article published in Nature Health marks the success of the Open Hyperinsulinism Genes Project, a partnership between the University of Exeter, the Royal Devon University Healthcare NHS Foundation Trust, and the US-based charitable organisation Congenital Hyperinsulinism International. Co-founded and led by the mother of a child with the condition, the organisation provides funding for genetic testing for people from countries where such services would otherwise be inaccessible.  

Professor Sarah Flanangan, of the University of Exeter Medical School, leads the research programme. She said: “In Exeter, we are committed to ensuring that every child born with congenital hyperinsulinism, wherever they are in the world, can benefit from rapid, state-of-the-art genetic testing something that has not previously been possible. This project combines Exeter’s world-leading genetics expertise with knowledge of the condition and funding from Congenital Hyperinsulinism International.  

Dr Jayne Houghton, lead Clinical Scientist for this project at the Royal Devon University Healthcare NHS Foundation Trust said “This alliance is unlocking access to rapid genomic testing for families across the world, giving children the best chance in life and expanding research to be more inclusive. We believe this model should be expanded to other rare diseases.”  

Exeter provides genetic testing for families across the world who cannot access these services in their own countries. Since its launch in 2018, the Open Hyperinsulinism Genes project has funded comprehensive, rapid genetic testing for over 1,100 families living with the condition, from 63 countries across six continents. The Exeter team have delivered a genetic diagnosis for 593 (52 per cent) of these children. These results confirmed diffuse disease, where the entire pancreas oversecretes insulin, in 438 children, and predicted focal disease, where insulin is secreted from a small region in the pancreas, in 155 children. Those with focal disease can be cured by surgery. For 29 of the infants, a syndromic form of hyperinsulinism was diagnosed, enabling more appropriate clinical monitoring for the development of other symptoms.  

Exeter also leads on research into the condition, inviting all of the families to be involved in genetic studies they could not otherwise access. By recruiting people from populations that are underrepresented in genomic studies, the project increases genetic diversity and strengthens the power of the resulting findings for a global population. Research via the project has already deepened understanding of the genetic basis of congenital hyperinsulinism and advanced knowledge of the biology of insulin secretion and the regulation of genes.   

Global impact inspired by Ben 

While some countries, including the UK, offer government funded genetic testing and treatment at specialist centres, many others do not. In the US most individuals with a confirmed medical diagnosis of congenital hyperinsulinism have genetic testing covered by - insurance.  

Julie Raskin’s son Ben was born with congenital hyperinsulinism. The early signs were missed, and diagnosis took a week, leaving him with a brain injury that caused low vision and epilepsy and learning disabilities and fine motor issues. Her campaign for better diagnosis led her to join with other parents to found Congenital Hyperinsulinism International, of which she is now CEO.  

Julie, from Glen Ridge, New Jersey, “As a mother who knows intimately the effect of congenital hyperinsulinism on my son and entire family, I see the enormous value of understanding its genetic cause. It sets expectations for how the future will unfold; which treatment options to pursue, and which will not be fruitful.”  

“Research and humanitarian components of this project are vital to end preventable and lifelong brain injuries. Our project enables families from every country access to a world-leading laboratory with specific expertise in congenital hyperinsulinism. These families are also counted in research, which is essential to increasing the overall understanding of the condition. By participating, these families are part of the reason scientific research breakthroughs are made, and they can feel pride in knowing they advanced knowledge, and human health more generally.” 

The research is also supported by the Exeter NIHR Biomedical Research Centre.  The paper is titled ‘The Open Hyperinsulinism Genes Project bridges global disparities in access to genomic medicine’, and is published in Nature Health.  

 

State-level differences in HPV vaccine uptake among 13- to 17-year-old adolescents



JAMA Pediatrics




About The Study: 

This cross-sectional study demonstrates substantial state-level variation in human papillomavirus (HPV) vaccine uptake among U.S. adolescents, even after adjustment for key sociodemographic factors. Several Northeastern states, including Massachusetts, Rhode Island, and New Hampshire, exhibited significantly higher odds of HPV vaccination compared with the reference state, Alabama, whereas multiple Southern states, particularly Mississippi, Georgia, Oklahoma, Kentucky, and West Virginia had significantly lower odds of uptake. 



Corresponding Author: To contact the corresponding author, Chinenye Lynette Ejezie, PhD, MPH, email cejezie@towson.edu.

To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/

(doi:10.1001/jamapediatrics.2026.1338)

Editor’s Note: Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, and funding and support.

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Embed this link to provide your readers free access to the full-text article 

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Expanding Medicaid coverage lowered death rates for young adults with kidney failure



A study led by Brown University researchers suggests that expanded health insurance coverage may significantly improve survival and care quality in this high-risk population.





Brown University





PROVIDENCE, R.I. [Brown University] — Among young adults with kidney failure, the expansion of Medicaid following the Affordable Care Act signed into law in 2010 was associated with substantial declines in one-year death rates, researchers from Brown University found in a new study.

“The biggest takeaway from this study is that health insurance is critically important for survival among individuals with a high and constant need for medical care,” said lead author Shailender Swaminathan, an adjunct professor of health services, policy and practice at the Brown University School of Public Health.

The researchers found that for young adults with kidney failure, Medicaid expansion led to improvements in pre-dialysis care, increased use of dialysis and longer dialysis sessions — all factors that can improve long-term health outcomes. The study, published in JAMA Pediatrics, focused on young adults for two main reasons.

“Young adults have historically been underinsured, but the Medicaid expansions under the Affordable Care Act were able to address that issue quite quickly,” Swaminathan said. “Thus, we were able to find a large shift in health insurance coverage for young adults before and after Medicaid expansions. Second, unlike for older adults, benefits of Medicaid for young adults can potentially accrue over multiple years.”

Prior to the Affordable Care Act, young adults had the highest rates of uninsurance of any age group in the United States. This was driven by several factors, including the loss of childhood eligibility for Medicaid coverage at age 19 and disproportionate employment in jobs that do not offer health insurance.

In 2010, the Affordable Care Act expanded Medicaid coverage for lower-income adults and required insurers to cover dependents on their parents’ employer-provided insurance plans until age 26. As a result, uninsurance rates for young adults ages 19 to 25 fell from 31.5% in 2009 to 13.1% in 2023 — the biggest change among any age group.

To find out how the expansion affected the mortality rates of young adults, the Brown research team zeroed in on the high-risk population of young adults with kidney failure, whose death from heart disease is 500 times greater than that of their peers. The team studied 7,139 patients, comparing young adults affected by Medicaid expansion (ages 19 to 23) with adolescents whose eligibility was unchanged (ages 14 to 18). The study period extended from 2010 through 2019.

They found that one-year mortality among 19- to 23-year-olds initiating dialysis declined by a statistically significant 1.8 percentage points after insurance expansion.

Health insurance coverage and access is one of the central health policy issues currently facing the country, said study author Dr. Amal Trivedi, a professor of health services, policy and practice at Brown. Between 5 million and 10 million Americans are projected to lose Medicaid coverage by 2028 as a result of H.R.1 (the One Big Beautiful Bill Act) signed into law in July 2025.

As we approach these issues, it’s important to keep in mind that Medicaid expansion was associated with substantial reductions in mortality among young adults with kidney failure initiating dialysis,” Trivedi said. “This suggests that expanded health insurance coverage may improve survival and care quality in this high-risk population.”

The research was funded by the National Institute of Diabetes and Digestive and Kidney Diseases (R01DK113298, R01DK129388) and the National Institute of Minority Health and Health Disparities (R01MD017080).

 

Turning Camellia shell waste into a dual nutrient trap for wastewater cleanup



Maximum Academic Press





The study showed that the engineered material, named BC5-500, achieved strong adsorption performance, especially for phosphate, and maintained useful activity even after repeated reuse cycles and in real swine wastewater.

Nitrogen and phosphorus pollution remains a major environmental challenge because large inputs from fertilizers, domestic discharge, and industrial and agricultural wastewater can destabilize aquatic ecosystems and trigger eutrophication. Adsorption has become a widely studied treatment route because it is simple, fast, and efficient, while biochar is especially attractive due to its porous structure, surface functional groups, and tunable chemistry. Previous studies have improved nutrient capture by modifying biochar with metals such as magnesium, iron, and aluminum, but adsorption performance still varies widely with feedstock and modification method. In this context, calcium-based modification is especially promising because calcium is abundant, relatively safe, inexpensive, and has strong affinity for ammonium and phosphate. At the same time, the rapidly expanding Camellia oleifera industry generates large volumes of shell waste that are difficult to dispose of, creating a practical need to convert this residue into higher-value materials.

study (DOI:10.48130/bchax-0026-0002) published in Biochar X on 30 January 2026 by Anping Wang’s & Jie Wang’s team, Guizhou Normal University & Qiandongnan Agriculture Science Institute, reports that Ca(OH)2-modified shell biochar can effectively remove ammonium and phosphate through different but complementary chemical pathways.

To create the adsorbent, the team first cleaned, dried, ground, and pyrolyzed Camellia oleifera shells at 500 °C to obtain the base biochar BC-500, then mixed it with calcium hydroxide, washed and dried the product, and subjected it to a second pyrolysis step to produce BC5-500. They screened nine modified biochars and found BC5-500 to be the best performer, reaching adsorption capacities of 26.66 mg·g−1 for ammonium and 186.18 mg·g−1 for phosphate in preliminary tests. The material was then characterized by SEM, BET surface area analysis, FT-IR, XRD, and XPS. These analyses showed that calcium modification roughened the biochar surface, increased pore volume and average pore diameter, introduced calcium-containing active phases, and created more reactive sites for nutrient capture. Adsorption tests further showed that ammonium uptake was favored under alkaline conditions, peaking at pH 11.0, while phosphate uptake was strongest in acidic conditions, peaking at pH 2.0. Kinetic modeling showed that both adsorption processes followed the pseudo-second-order model, indicating chemisorption-dominated behavior. Isotherm analysis suggested that ammonium adsorption involved both monolayer and multilayer behavior, whereas phosphate adsorption was better described by the Freundlich model, consistent with multilayer adsorption on a heterogeneous surface. Temperature experiments showed that phosphate adsorption declined as temperature increased, while ammonium adsorption first decreased and then rose at higher temperatures. Mechanistic evidence from FT-IR, XRD, and XPS indicated that ammonium removal was driven mainly by ion exchange, whereas phosphate removal relied on both ion exchange and, more importantly, calcium-phosphate precipitation, including formation of hydroxyapatite-like products. Reuse tests showed that the biochar still retained substantial adsorption after five cycles. In actual swine wastewater, ammonium removal was limited, likely because of low concentration and competition from coexisting contaminants, but phosphate removal remained highly effective, reaching 97.73%, demonstrating particular promise for phosphorus-rich waste streams.

Overall, the study presents a practical example of waste-to-resource engineering: an abundant agricultural by-product was converted into a functional adsorbent capable of targeting two problematic nutrients in polluted water. Although its phosphate removal was much stronger than its ammonium performance in complex real wastewater, the material combined affordability, reusability, mechanistic clarity, and applicability to livestock effluents. The work therefore offers a useful foundation for developing biochar-based nutrient management technologies that link agricultural residue utilization with cleaner water and more sustainable resource recovery.

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References

DOI

10.48130/bchax-0026-0002

Original Source URL

https://doi.org/10.48130/bchax-0026-0002

Funding information

This work is supported by the project of the Guizhou Provincial Department of Science and Technology (Grant Nos Qiankehe Zhicheng [2023] 078, Qiankehe Jichu-ZK [2024] zhongdian 055, and Qiankehe Pingtai-KXJZ [2025] 023), and Projects of Forestry Research in Guizhou Province (Grant No. GUI[2022] TSLY07).

About Biochar X

Biochar X is an open access, online-only journal aims to transcend traditional disciplinary boundaries by providing a multidisciplinary platform for the exchange of cutting-edge research in both fundamental and applied aspects of biochar. The journal is dedicated to supporting the global biochar research community by offering an innovative, efficient, and professional outlet for sharing new findings and perspectives. Its core focus lies in the discovery of novel insights and the development of emerging applications in the rapidly growing field of biochar science.